MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:12921
Name:Xeroderma Pigmentosum, Complementation Group C
Definition:
Alternative IDs:OMIM:278720
ParentIDs:MESH:D014983
TreeNumbers:C04.834.867/C567886 |C16.131.831.936/C567886 |C16.320.850.970/C567886 |C17.800.600.925/C567886 |C17.800.621.936/C567886 |C17.800.804.936/C567886 |C17.800.827.970/C567886 |C18.452.284.975/C567886
Synonyms:Xeroderma Pigmentosum III |XP3 |XPC |XPCC |XP, Group C
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C567886
MeSH: C567886
OMIM: 278720;
MSeqDR LSDB:  
Genes: XPC;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011463Childhood onset
3 HP:0002671Basal cell carcinoma
4 HP:0000509Conjunctivitis
5 HP:0012056Cutaneous melanoma
6 HP:0000992Cutaneous photosensitivity
7 HP:0003079Defective DNA repair after ultraviolet radiation damage
8 HP:0004334Dermal atrophy
9 HP:0000656Ectropion
10 HP:0000621Entropion
11 HP:0001010Hypopigmentation of the skin
12 HP:0000491Keratitis
13 HP:0000613Photophobia
14 HP:0001029Poikiloderma
15 HP:0006739Squamous cell carcinoma of the skin
16 HP:0001009Telangiectasia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004628.5(XPC):c.*684G>C-1TMEM43;XPCBenign/Likely benignrs1126547RCV000355609|RCV000397507|RCV001146213; NMONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418675714186757CG3:g.14186757C>GClinGen:CA2266952
NM_004628.5(XPC):c.*618A>G-1TMEM43;XPCBenign/Likely benignrs2470458RCV000263158|RCV000305702|RCV001146217; NMONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418682314186823TC3:g.14186823T>CClinGen:CA2266956
NM_004628.5(XPC):c.*611T>A-1TMEM43;XPCBenign/Likely benignrs2470352RCV000296984|RCV000353421|RCV001149011; NMONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418683014186830AT3:g.14186830A>TClinGen:CA2266958C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004628.5(XPC):c.*192T>C-1TMEM43;XPCLikely benignrs3731178RCV000299770|RCV000327424|RCV001149012|RCV001538920; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231418724914187249AG3:g.14187249A>GClinGen:CA2266980C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004628.5(XPC):c.*133G>A-1TMEM43;XPCConflicting interpretations of pathogenicityrs377250919RCV000356898|RCV000384332|RCV001149014; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418730814187308CT3:g.14187308C>TClinGen:CA2266991C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004628.5(XPC):c.*96C>G-1TMEM43;XPCBenign/Likely benignrs2229090RCV000273637|RCV000289517|RCV000665757|RCV001643044; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231418734514187345GC3:g.14187345G>CClinGen:CA2266996C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)-1TMEM43;XPCBenign/Likely benignrs2228001RCV000170436|RCV000380504|RCV000331098|RCV001150524|RCV001513521; NMedGen:CN169374|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231418744914187449GT3:g.14187449G>TPharmGKB Clinical Annotation:655386612,ClinGen:CA199619,UniProtKB:Q01831#VAR_005848
NM_004628.5(XPC):c.2421-11T>C-1TMEM43;XPCBenign/Likely benignrs3731167RCV000387997|RCV000392465|RCV001144434; NMONDO:MONDO:0016587,MedGen:C0349788,OMIM:PS107970, Orphanet:247|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418951214189512AG3:g.14189512A>GClinGen:CA2267139C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004628.5(XPC):c.*792A>G7508XPCUncertain significancers776547561RCV000406327; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418664914186649TC3:g.14186649T>CClinGen:CA10617502
NM_004628.5(XPC):c.*756T>C7508XPCUncertain significancers556973888RCV000303006; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418668514186685AG3:g.14186685A>GClinGen:CA2266950
NM_004628.5(XPC):c.*682A>G7508XPCUncertain significancers187666722RCV001146214; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418675914186759TC3:g.14186759T>C-
NM_004628.5(XPC):c.*648C>T7508XPCUncertain significancers1015682387RCV001146215; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418679314186793GA3:g.14186793G>A-
NM_004628.5(XPC):c.*624A>C7508XPCUncertain significancers548142411RCV001146216; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418681714186817TG3:g.14186817T>G-
NM_004628.5(XPC):c.*611T>C7508XPCUncertain significancers2470352RCV001146218; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418683014186830AG3:g.14186830A>G-
NM_004628.5(XPC):c.*483A>C7508XPCUncertain significancers886058045RCV000354262; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418695814186958TG3:g.14186958T>GClinGen:CA10615432
NM_004628.5(XPC):c.*452G>A7508XPCUncertain significancers554938831RCV000275724; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418698914186989CT3:g.14186989C>TClinGen:CA2266964C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.*270A>G7508XPCLikely benignrs564228132RCV000274745; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418717114187171TC3:g.14187171T>CClinGen:CA2266974
NM_004628.5(XPC):c.*156G>A7508XPCUncertain significancers121965092RCV000665491; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418728514187285CT3:g.14187285C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.*139G>T7508XPCUncertain significancers773332345RCV001149013; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418730214187302CA3:g.14187302C>A-
NM_004628.5(XPC):c.*89G>C7508XPCUncertain significancers5031057RCV000342137; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418735214187352CG3:g.14187352C>GClinGen:CA2266999
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)7508XPCBenign/Likely benignrs3731177RCV000122330|RCV000861084|RCV001150525; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418748214187482TG3:g.14187482T>GClinGen:CA162874,UniProtKB:Q01831#VAR_018904CN169374 not specified;
NM_004628.5(XPC):c.2782A>T (p.Lys928Ter)7508XPCUncertain significancers3731177RCV000673803; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418748214187482TA3:g.14187482T>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2765_2773del (p.Lys922_Lys924del)7508XPCUncertain significancers1553604206RCV000670785; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418749114187499CTTTTGGTCTC3:g.14187491_14187499del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2724AGA[1] (p.Glu909del)7508XPCUncertain significancers751026244RCV000674927; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418753514187537ATCTA3:g.14187535_14187537del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)7508XPCUncertain significancers199527751RCV000665985; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418754214187542GA3:g.14187542G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2703del (p.Ala902fs)7508XPCUncertain significancers1280251289RCV000672946; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418756114187561CAC3:g.14187561_14187561del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)7508XPCUncertain significancers183167499RCV000122332|RCV000665113; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418763114187631GC3:g.14187631G>CClinGen:CA162880CN169374 not specified;
NM_004628.5(XPC):c.2633del (p.Ala878fs)7508XPCUncertain significancers1553604236RCV000668724; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418763114187631TGT3:g.14187631_14187631del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu)7508XPCUncertain significancers375859472RCV000122331|RCV000667059; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418764314187643GA3:g.14187643G>AClinGen:CA162877CN169374 not specified;
NM_004628.5(XPC):c.2605-2A>T7508XPCUncertain significancers1553604251RCV000664640; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418766114187661TA3:g.14187661T>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2596G>A (p.Gly866Arg)7508XPCUncertain significancers751759776RCV001150526; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418879814188798CT3:g.14188798C>T-
NM_004628.5(XPC):c.2591G>A (p.Arg864His)7508XPCUncertain significancers776645102RCV000283714; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418880314188803CT3:g.14188803C>TClinGen:CA2267090
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala)7508XPCUncertain significancers55779831RCV000122329|RCV000671442; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418885714188857CG3:g.14188857C>GClinGen:CA162871CN169374 not specified;
NM_004628.5(XPC):c.2515A>G (p.Lys839Glu)7508XPCUncertain significancers765684436RCV000341081; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418887914188879TC3:g.14188879T>CClinGen:CA10615447
NM_004628.5(XPC):c.2514+6C>T7508XPCUncertain significancers367800362RCV001150527; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418940214189402GA3:g.14189402G>A-
NM_004628.5(XPC):c.2512G>A (p.Glu838Lys)7508XPCUncertain significance-1RCV001761527; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418941014189410CT14189410-
NM_004628.5(XPC):c.2496T>C (p.Ile832=)7508XPCConflicting interpretations of pathogenicityrs201597537RCV000884681|RCV001144433; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418942614189426AG3:g.14189426A>G-
NM_004628.5(XPC):c.2437G>A (p.Val813Ile)7508XPCUncertain significance-1RCV001761528; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031418948514189485CT14189485-
NM_004628.5(XPC):c.2418C>A (p.Pro806=)7508XPCUncertain significancers199828421RCV001144435; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419006414190064GT3:g.14190064G>T-
NM_004628.5(XPC):c.2412C>T (p.Ser804=)7508XPCConflicting interpretations of pathogenicityrs752120059RCV001144436|RCV001460111; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419007014190070GA3:g.14190070G>A-
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser)7508XPCUncertain significancers200148127RCV000122328|RCV001355717|RCV001762270; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419007814190078CT3:g.14190078C>TClinGen:CA162868CN169374 not specified;
NM_004628.5(XPC):c.2351G>A (p.Arg784His)7508XPCUncertain significancers753463306RCV001144437; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419013114190131CT3:g.14190131C>T-
NM_004628.5(XPC):c.2336dup (p.His780fs)7508XPCLikely pathogenicrs1553604549RCV000666883; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419014514190146TTA3:g.14190145_14190146insA-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2331dup (p.Asn778fs)7508XPCLikely pathogenicrs1553604552RCV000671731; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419015014190151TTG3:g.14190150_14190151insG-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2317C>T (p.Gln773Ter)7508XPCLikely pathogenicrs1281090187RCV000665464; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419016514190165GA3:g.14190165G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2311T>C (p.Cys771Arg)7508XPCUncertain significance-1RCV001761529; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419017114190171AG14190171-
NM_004628.5(XPC):c.2287del (p.Leu763fs)7508XPCPathogenicrs1553604559RCV000674367; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419019514190195AGA3:g.14190195_14190195del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2262del (p.Asn754fs)7508XPCPathogenicrs786205206RCV000170429; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419022014190220CGC3:g.14190220_14190220delClinGen:CA274752
NM_004628.5(XPC):c.2251-1G>C7508XPCPathogenicrs754673606RCV000170434|RCV000590804|RCV001071689; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231419023214190232CG3:g.14190232C>GClinGen:CA274757C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.2251-2A>G7508XPCLikely pathogenicrs1553604570RCV000674481; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419023314190233TC3:g.14190233T>C-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2251-6A>C7508XPCBenignrs2279017RCV000170435|RCV000301008|RCV000588913; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419023714190237TG3:g.14190237T>GClinGen:CA199618CN517202 not provided;
NM_004628.5(XPC):c.2251-7G>A7508XPCConflicting interpretations of pathogenicityrs756300837RCV001144438|RCV001457378; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419023814190238CT3:g.14190238C>T-
NM_004628.5(XPC):c.2250+6G>A7508XPCConflicting interpretations of pathogenicityrs201446851RCV000914044|RCV001146335; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419030814190308CT3:g.14190308C>T-
NM_004628.5(XPC):c.2238C>T (p.Ala746=)7508XPCConflicting interpretations of pathogenicityrs375170067RCV000905965|RCV001146336; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419032614190326GA3:g.14190326G>A-
NM_004628.5(XPC):c.2215GAG[1] (p.Glu740del)7508XPCUncertain significancers776958968RCV000674740; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419034414190346ACTCA3:g.14190344_14190346del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2218G>T (p.Glu740Ter)7508XPCPathogenic/Likely pathogenicrs770308917RCV000673240|RCV000797367; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419034614190346CA3:g.14190346C>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2194dup (p.Leu732fs)7508XPCConflicting interpretations of pathogenicityrs1309116467RCV000673385|RCV001064403; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419036914190370AAG3:g.14190369_14190370insG-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2174G>A (p.Arg725Gln)7508XPCUncertain significancers567932695RCV001146337; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419039014190390CT3:g.14190390C>T-
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter)7508XPCPathogenic/Likely pathogenicrs754775337RCV000666559|RCV001280679|RCV001532474; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231419041214190412GA3:g.14190412G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2138G>A (p.Arg713His)7508XPCUncertain significancers778769039RCV000668060; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419042614190426CT3:g.14190426C>TClinGen:CA2267245
NM_004628.5(XPC):c.2137C>T (p.Arg713Cys)7508XPCUncertain significancers374783706RCV001146338; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419042714190427GA3:g.14190427G>A-
NM_004628.5(XPC):c.2126_2129del (p.Gly709fs)7508XPCPathogenicrs1574950526RCV000790405; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419043514190438AAAGCA3:g.14190435_14190438del-
NM_004628.5(XPC):c.2127del (p.Ser711fs)7508XPCPathogenicrs1695569595RCV001172310; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419043714190437AGA3:g.14190437_14190437del-
NM_004628.5(XPC):c.2116-1G>A7508XPCLikely pathogenicrs1553604620RCV000667696; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419044914190449CT3:g.14190449C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2101G>T (p.Glu701Ter)7508XPCLikely pathogenicrs1553605023RCV000673420; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419384914193849CA3:g.14193849C>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2086GTG[3] (p.Val697dup)7508XPCUncertain significancers1423935768RCV000669456; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419385814193859TTCAC3:g.14193858_14193859insCAC-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2088G>A (p.Val696=)7508XPCConflicting interpretations of pathogenicityrs182189497RCV000861308|RCV001146339; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419386214193862CT3:g.14193862C>T-
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)7508XPCPathogenicrs374117852RCV000589424|RCV000666668|RCV001390105; NMONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419387614193876TA3:g.14193876T>AClinGen:CA2267274
NM_004628.5(XPC):c.2061G>A (p.Arg687=)7508XPCBenignrs2227998RCV000122327|RCV000314393|RCV001513522; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419388914193889CT3:g.14193889C>TClinGen:CA162865CN169374 not specified;
NM_004628.5(XPC):c.2033+5G>A7508XPCUncertain significancers374329989RCV000669856; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419783014197830CT3:g.14197830C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2033+4C>T7508XPCConflicting interpretations of pathogenicityrs753195190RCV000252347|RCV000667312; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419783114197831GA3:g.14197831G>AClinGen:CA2267300CN169374 not specified;
NM_004628.5(XPC):c.2033+2T>G7508XPCPathogenicrs794729655RCV000000281; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419783314197833AC3:g.14197833A>CClinGen:CA251392,OMIM:613208.0005C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2033+1G>A7508XPCLikely pathogenicrs764480429RCV000674407|RCV001225610; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419783414197834CT3:g.14197834C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.2028C>T (p.Tyr676=)7508XPCBenignrs2228004RCV000885047|RCV001146340|RCV001192696; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN16937431419784014197840GA3:g.14197840G>A-
NM_004628.5(XPC):c.2020G>T (p.Ala674Ser)7508XPCUncertain significancers374888544RCV001149137; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419784814197848CA3:g.14197848C>A-
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys)7508XPCUncertain significancers771891932RCV000669219; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419785714197857GA3:g.14197857G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1984G>A (p.Glu662Lys)7508XPCUncertain significancers372048184RCV000371233; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419788414197884CT3:g.14197884C>TClinGen:CA2267312
NM_004628.5(XPC):c.1975A>G (p.Ile659Val)7508XPCUncertain significance-1RCV001761530; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419789314197893TC14197893-
NM_004628.5(XPC):c.1947G>A (p.Leu649=)7508XPCUncertain significancers764572758RCV001149138; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419792114197921CT3:g.14197921C>T-
NM_004628.5(XPC):c.1946T>C (p.Leu649Pro)7508XPCUncertain significancers1695909488RCV001292784; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419792214197922AG14197922-
NM_004628.5(XPC):c.1942G>T (p.Ala648Ser)7508XPCUncertain significancers1332080043RCV001149139; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419792614197926CA3:g.14197926C>A-
NM_004628.5(XPC):c.1934del (p.Pro645fs)7508XPCLikely pathogenicrs1553605497RCV000671307; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419793414197934AGA3:g.14197934_14197934del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1913T>C (p.Ile638Thr)7508XPCUncertain significancers752133677RCV001149140; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419795514197955AG3:g.14197955A>G-
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter)7508XPCPathogenicrs3731139RCV001172308; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419797414197974GA3:g.14197974G>A-
NM_004628.5(XPC):c.1873-10G>T7508XPCUncertain significancers886058049RCV000674634; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419800514198005CA3:g.14198005C>AClinGen:CA10615448
NM_004628.5(XPC):c.1872+1G>C7508XPCPathogenicrs1559374923RCV000680142; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419951014199510CG3:g.14199510C>G-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser)7508XPCBenign/Likely benignrs144766677RCV000122350|RCV000861291|RCV001149141; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419954214199542AG3:g.14199542A>GClinGen:CA162933CN169374 not specified;
NM_004628.5(XPC):c.1823G>A (p.Arg608Lys)7508XPCUncertain significancers768979551RCV000313008; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419956014199560CT3:g.14199560C>TClinGen:CA2267354
NM_004628.5(XPC):c.1781G>A (p.Arg594His)7508XPCUncertain significancers147900621RCV001150641|RCV001354136; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419960214199602CT3:g.14199602C>T-
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)7508XPCBenign/Likely benignrs183238369RCV000122344|RCV000861309|RCV001150642; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419960314199603GA3:g.14199603G>AClinGen:CA162916CN169374 not specified;
NM_004628.5(XPC):c.1750_1751del (p.Arg584fs)7508XPCLikely pathogenicrs752030576RCV000670977; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419963214199633CCTC3:g.14199632_14199633del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter)7508XPCPathogenicrs121965088RCV000000283|RCV001260295; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:91031419964814199648GA3:g.14199648G>AClinGen:CA251394,OMIM:613208.0007C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1734C>A (p.Val578=)7508XPCBenignrs3731131RCV000894251|RCV001150643; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419964914199649GT3:g.14199649G>T-
NM_004628.5(XPC):c.1686del (p.Thr563fs)7508XPCLikely pathogenicrs1553605655RCV000674806; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419969714199697TGT3:g.14199697_14199697del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)7508XPCPathogenicrs767569346RCV000170432; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419970614199706GT3:g.14199706G>TClinGen:CA274754C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1673_1675dup (p.Cys558dup)7508XPCUncertain significancers1553605670RCV000674982; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419970714199708TTAAC3:g.14199707_14199708insAAC-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)7508XPCPathogenicrs754532049RCV000000286|RCV000781925|RCV000791609; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231419973914199740GCAG3:g.14199739_14199740delClinGen:CA251399,OMIM:613208.0010
NM_004628.5(XPC):c.1634T>C (p.Val545Ala)7508XPCUncertain significancers1696004839RCV001150644; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419974914199749AG3:g.14199749A>G-
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly)7508XPCConflicting interpretations of pathogenicityrs563236303RCV000365299|RCV000940955; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419976714199767TC3:g.14199767T>CClinGen:CA2267401C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1564A>T (p.Lys522Ter)7508XPCLikely pathogenicrs746250060RCV000664538; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419981914199819TA3:g.14199819T>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1539G>C (p.Met513Ile)7508XPCBenignrs3731130RCV000122349|RCV000907099|RCV001150645; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419984414199844CG3:g.14199844C>GClinGen:CA162930,UniProtKB:Q01831#VAR_018900CN169374 not specified;
NM_004628.5(XPC):c.1539G>A (p.Met513Ile)7508XPCUncertain significancers3731130RCV000669738; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419984414199844CT3:g.14199844C>TClinGen:CA2267415,UniProtKB:Q01831#VAR_018900C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1531A>C (p.Lys511Gln)7508XPCUncertain significancers6413541RCV001144542; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419985214199852TG3:g.14199852T>G-
NM_004628.5(XPC):c.1522A>G (p.Lys508Glu)7508XPCUncertain significance-1RCV001761531; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419986114199861TC14199861-
NM_004628.5(XPC):c.1509C>T (p.Ser503=)7508XPCConflicting interpretations of pathogenicityrs760867012RCV000933789|RCV001144543; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419987414199874GA3:g.14199874G>A-
NM_004628.5(XPC):c.1496C>T (p.Ala499Val)7508XPCBenignrs2228000RCV000122343|RCV000325908|RCV001510258; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419988714199887GA3:g.14199887G>AClinGen:CA162913,UniProtKB:Q01831#VAR_018899CN169374 not specified;
NM_004628.5(XPC):c.1465_1476del (p.Gly489_Arg492del)7508XPCUncertain significancers1553605733RCV000665837; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419990714199918TACGATGGCTCCCT3:g.14199907_14199918del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1475G>A (p.Arg492His)7508XPCBenignrs2227999RCV000122348|RCV000363404|RCV001517743; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419990814199908CT3:g.14199908C>TClinGen:CA162927,UniProtKB:Q01831#VAR_018898CN169374 not specified;
NM_004628.5(XPC):c.1474C>A (p.Arg492Ser)7508XPCUncertain significancers373883060RCV001144544; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419990914199909GT3:g.14199909G>T-
NM_004628.5(XPC):c.1469G>A (p.Ser490Asn)7508XPCUncertain significancers886058050RCV000266386; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419991414199914CT3:g.14199914C>TClinGen:CA10617380C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1464_1466del (p.Gly489del)7508XPCUncertain significancers1553605750RCV000668194; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419991714199919CCCAC3:g.14199917_14199919del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1455G>T (p.Arg485Ser)7508XPCUncertain significance-1RCV001788978; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419992814199928CA14199928-
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn)7508XPCBenign/Likely benignrs182616621RCV000252816|RCV000861188|RCV001144545; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031419994014199940CA3:g.14199940C>AClinGen:CA2267435
NM_004628.5(XPC):c.1421dup (p.Arg475fs)7508XPCPathogenic/Likely pathogenicrs1553605761RCV000671210|RCV000819837; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231419996114199962CCT3:g.14199961_14199962insT-
NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)7508XPCLikely pathogenicrs754197041RCV000667716; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420000214200002CA3:g.14200002C>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1365C>T (p.Pro455=)7508XPCConflicting interpretations of pathogenicityrs753527196RCV000980736|RCV001144546; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420001814200018GA3:g.14200018G>A-
NM_004628.5(XPC):c.1328_1329del (p.Gly442_Ser443insTer)7508XPCLikely pathogenicrs1553605795RCV000672875; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420005414200055CAGC3:g.14200054_14200055del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1293_1294insT (p.Glu432Ter)7508XPCLikely pathogenicrs1553605805RCV000672979; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420008914200090CCA3:g.14200089_14200090insA-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)7508XPCPathogenicrs794729654RCV000000280; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420009014200091CTTC3:g.14200090_14200091delClinGen:CA251391,OMIM:613208.0004C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1289_1293del (p.Ser429_Tyr430insTer)7508XPCPathogenic/Likely pathogenicrs1553605813RCV000674478|RCV001381047; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420009014200094CTTTATC3:g.14200090_14200094del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1268G>A (p.Arg423Gln)7508XPCUncertain significancers376808339RCV000323803; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420011514200115CT3:g.14200115C>TClinGen:CA2267471C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1246C>G (p.Arg416Gly)7508XPCUncertain significancers369928352RCV001146473; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420013714200137GC3:g.14200137G>C-
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)7508XPCPathogenicrs757958943RCV000505517|RCV001090469|RCV001175486; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN517202|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:91031420014014200140GA3:g.14200140G>AClinGen:CA2267485
NM_004628.5(XPC):c.1229A>G (p.Glu410Gly)7508XPCUncertain significancers587778762RCV000122341|RCV000666212; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420015414200154TC3:g.14200154T>CClinGen:CA162907CN169374 not specified;
NM_004628.5(XPC):c.1198G>A (p.Glu400Lys)7508XPCUncertain significance-1RCV001761532; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420018514200185CT14200185-
NM_004628.5(XPC):c.1185G>A (p.Lys395=)7508XPCConflicting interpretations of pathogenicityrs886058051RCV000674640; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420019814200198CT3:g.14200198C>TClinGen:CA10615449C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)7508XPCUncertain significancers121965090RCV000122342|RCV000998003|RCV001146474; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420020614200206GA3:g.14200206G>AClinGen:CA162910CN169374 not specified;
NM_004628.5(XPC):c.1143dup (p.Lys382fs)7508XPCLikely pathogenicrs1553605871RCV000664823; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420023914200240TTG3:g.14200239_14200240insG-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys)7508XPCUncertain significancers533121927RCV001292648; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420025014200250CT14200250-
NM_004628.5(XPC):c.1131C>T (p.Cys377=)7508XPCConflicting interpretations of pathogenicityrs187340581RCV000284141|RCV001481011; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420025214200252GA3:g.14200252G>AClinGen:CA2267503C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs)7508XPCPathogenicrs1450238352RCV000671910|RCV001194078|RCV001390106; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231420027914200280CTTC3:g.14200279_14200280del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1023G>A (p.Ala341=)7508XPCConflicting interpretations of pathogenicityrs370847346RCV001146475|RCV001433313; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420036014200360CT3:g.14200360C>T-
NM_004628.5(XPC):c.1022C>T (p.Ala341Val)7508XPCUncertain significancers192285219RCV001146476; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420036114200361GA3:g.14200361G>A-
NM_004628.5(XPC):c.1001C>A (p.Pro334His)7508XPCConflicting interpretations of pathogenicityrs74737358RCV000000277|RCV000122346|RCV000885048; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN169374|MedGen:CN51720231420038214200382GT3:g.14200382G>TClinGen:CA162922,UniProtKB:Q01831#VAR_005846,OMIM:613208.0001CN169374 not specified;
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)7508XPCBenign/Likely benignrs200338014RCV000122345|RCV000923513|RCV001149245; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420038314200383GA3:g.14200383G>AClinGen:CA162919CN169374 not specified;
NM_004628.5(XPC):c.991-2A>G7508XPCLikely pathogenicrs1553605894RCV000671134; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420039414200394TC3:g.14200394T>C-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.958C>T (p.Gln320Ter)7508XPCPathogenic/Likely pathogenicrs867461743RCV000666370|RCV001241797; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420127314201273GA3:g.14201273G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.940C>T (p.Arg314Trp)7508XPCUncertain significancers914274804RCV001149246; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420129114201291GA3:g.14201291G>A-
NM_004628.5(XPC):c.915dup (p.Leu306fs)7508XPCLikely pathogenicrs1553605973RCV000670246; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420131514201316GGA3:g.14201315_14201316insA-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.900T>C (p.His300=)7508XPCUncertain significance-1RCV001761523; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420631314206313AG14206313-
NM_004628.5(XPC):c.877C>T (p.Arg293Ter)7508XPCPathogenicrs373519125RCV000670127; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420633614206336GA3:g.14206336G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.872C>G (p.Ser291Cys)7508XPCConflicting interpretations of pathogenicityrs184879571RCV000122339|RCV000318203|RCV000898282; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420634114206341GC3:g.14206341G>CClinGen:CA162901CN169374 not specified;
NM_004628.5(XPC):c.860T>G (p.Phe287Cys)7508XPCBenign/Likely benignrs35629274RCV000122340|RCV000375025|RCV000861430; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420635314206353AC3:g.14206353A>CClinGen:CA162904,UniProtKB:Q01831#VAR_057475CN169374 not specified;
NM_004628.5(XPC):c.780-15C>T7508XPCBenign/Likely benignrs3731116RCV000251148|RCV001149247|RCV001589262; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420644814206448GA3:g.14206448G>AClinGen:CA2267595
NM_004628.5(XPC):c.779+12C>G7508XPCUncertain significancers754591857RCV001149248; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420691614206916GC3:g.14206916G>C-
NM_004628.5(XPC):c.779+11C>T7508XPCUncertain significancers199838876RCV001149249; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420691714206917GA3:g.14206917G>A-
NM_004628.5(XPC):c.779+1G>A7508XPCLikely pathogenicrs975121308RCV000671425; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420692714206927CT3:g.14206927C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.779+1G>T7508XPCLikely pathogenicrs975121308RCV000670600|RCV000806741; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420692714206927CA3:g.14206927C>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys)7508XPCUncertain significancers587778760RCV000122336|RCV000668035; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420695214206952TC3:g.14206952T>CClinGen:CA162892CN169374 not specified;
NM_004628.5(XPC):c.739C>T (p.Arg247Ter)7508XPCPathogenicrs764321665RCV000672294|RCV001048861; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420696814206968GA3:g.14206968G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.736C>T (p.Pro246Ser)7508XPCUncertain significancers587778761RCV000122338|RCV000670420; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420697114206971GA3:g.14206971G>AClinGen:CA162898CN169374 not specified;
NM_004628.5(XPC):c.728G>A (p.Arg243Lys)7508XPCUncertain significancers762480645RCV001294011; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420697914206979CT14206979-
NM_004628.5(XPC):c.718C>T (p.Arg240Cys)7508XPCUncertain significancers552222088RCV000122337|RCV000666016; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420698914206989GA3:g.14206989G>AClinGen:CA162895CN169374 not specified;
NM_004628.5(XPC):c.706A>G (p.Ile236Val)7508XPCUncertain significancers750767012RCV000987122; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420700114207001TC3:g.14207001T>C-
NM_004628.5(XPC):c.669_670del (p.Ile223fs)7508XPCPathogenicrs1696343406RCV001172307; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420703714207038CAGC3:g.14207037_14207038del-
NM_004628.5(XPC):c.658C>T (p.Arg220Ter)7508XPCPathogenicrs745679643RCV000664637|RCV001201195|RCV001385310; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231420704914207049GA3:g.14207049G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.622-2A>C7508XPCPathogenicrs201940931RCV000170430|RCV001174681|RCV001205980; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231420708714207087TG3:g.14207087T>GClinGen:CA274753
NM_004628.5(XPC):c.622-2A>G7508XPCPathogenic/Likely pathogenicrs201940931RCV000664737|RCV001529516; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420708714207087TC3:g.14207087T>C-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.621+2dup7508XPCUncertain significancers1553606975RCV000674947; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420866614208667TTA3:g.14208666_14208667insA-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.618_619del (p.His206fs)7508XPCLikely pathogenicrs1553606979RCV000674941; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420867114208672TTGT3:g.14208671_14208672del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.597A>C (p.Lys199Asn)7508XPCUncertain significancers587778759RCV000122335|RCV000665166; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420869314208693TG3:g.14208693T>GClinGen:CA162889CN169374 not specified;
NM_004628.5(XPC):c.574A>G (p.Arg192Gly)7508XPCUncertain significancers200485886RCV001149250; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420871614208716TC3:g.14208716T>C-
NM_004628.5(XPC):c.572G>A (p.Arg191Gln)7508XPCUncertain significance-1RCV001761525; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420871814208718CT14208718-
NM_004628.5(XPC):c.566_567del (p.Tyr189fs)7508XPCConflicting interpretations of pathogenicityrs752088918RCV000000282|RCV000589161|RCV001062453; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN51720231420872314208724GATG3:g.14208723_14208724delClinGen:CA251393,OMIM:613208.0006C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.537-1G>C7508XPCLikely pathogenicrs1326646197RCV000673738; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420875414208754CG3:g.14208754C>G-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.536+11G>T7508XPCUncertain significancers182782193RCV001150748; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420974614209746CA3:g.14209746C>A-
NM_004628.5(XPC):c.524_525dup (p.Arg176fs)7508XPCPathogenicrs1696466639RCV001172306; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420976714209768TTTG3:g.14209767_14209768insTG-
NM_004628.5(XPC):c.515dup (p.Ala173fs)7508XPCLikely pathogenicrs1553607144RCV000669213; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420977714209778CCT3:g.14209777_14209778insT-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.478G>T (p.Val160Leu)7508XPCUncertain significancers587778763RCV000122351|RCV000666289; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420981514209815CA3:g.14209815C>AClinGen:CA162936CN169374 not specified;
NM_004628.5(XPC):c.470_471del (p.Leu157fs)7508XPCLikely pathogenicrs1574972784RCV000991414; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420982214209823GAAG3:g.14209822_14209823del-
NM_004628.5(XPC):c.445_446del (p.Glu149fs)7508XPCPathogenicrs1402162002RCV000673154; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420984714209848TTCT3:g.14209847_14209848del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.420_423del (p.Glu141fs)7508XPCPathogenicrs1330667099RCV000665434|RCV001049994|RCV001194079; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN517202|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:91031420987014209873GCTCAG3:g.14209870_14209873del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.413-4A>G7508XPCConflicting interpretations of pathogenicityrs367977379RCV000335770|RCV000905236; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231420988414209884TC3:g.14209884T>CClinGen:CA2267712C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.413-9T>A7508XPCPathogenicrs794729656RCV000000284; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420988914209889AT3:g.14209889A>TClinGen:CA251397,OMIM:613208.0008C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.413-24A>G7508XPCPathogenicrs794729657RCV000000285; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031420990414209904TC3:g.14209904T>CClinGen:CA251398,OMIM:613208.0009C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.409dup (p.Glu137fs)7508XPCLikely pathogenicrs1208223013RCV000673386; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421194014211941TTC3:g.14211940_14211941insC-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.395_398del (p.Asp132fs)7508XPCPathogenicrs1696563531RCV001172309; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421195214211955CCAATC3:g.14211952_14211955del-
NM_004628.5(XPC):c.393T>C (p.Asn131=)7508XPCUncertain significancers1696563827RCV001150749; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421195714211957AG3:g.14211957A>G-
NM_004628.5(XPC):c.392A>C (p.Asn131Thr)7508XPCUncertain significancers747522884RCV001150750; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421195814211958TG3:g.14211958T>G-
NM_004628.5(XPC):c.368del (p.Asn123fs)7508XPCLikely pathogenicrs1553607419RCV000669908; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421198214211982ATA3:g.14211982_14211982del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.351_352insGTA (p.Met118_Asn119insVal)7508XPCUncertain significancers1358623305RCV000673552; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421199814211999TTTAC3:g.14211998_14211999insTAC-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.342_343del (p.Ala116fs)7508XPCPathogenicrs1228981894RCV000668532|RCV001532475; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421200714212008CCTC3:g.14212007_14212008del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.303C>T (p.Asp101=)7508XPCBenignrs41545713RCV000861559|RCV001150751; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421204714212047GA3:g.14212047G>A-
NM_004628.5(XPC):c.300G>A (p.Arg100=)7508XPCBenignrs2228002RCV000122334|RCV000393493|RCV000860881; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421205014212050CT3:g.14212050C>TClinGen:CA162886CN169374 not specified;
NM_004628.5(XPC):c.299+2T>G7508XPCPathogenic-1RCV001761526; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421436514214365AC14214365-
NM_004628.5(XPC):c.299+1G>A7508XPCLikely pathogenicrs1553607744RCV000666590|RCV000805953; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421436614214366CT3:g.14214366C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.262A>G (p.Ile88Val)7508XPCUncertain significancers200197232RCV000296019; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421440414214404TC3:g.14214404T>CClinGen:CA2267768C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.203A>T (p.Asp68Val)7508XPCConflicting interpretations of pathogenicityrs56012223RCV000940509|RCV001292834; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421446314214463TA3:g.14214463T>A-
NM_004628.5(XPC):c.191G>C (p.Gly64Ala)7508XPCUncertain significance-1RCV001356881|RCV001762613; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421447514214475CG14214475-
NM_004628.5(XPC):c.147del (p.Val51fs)7508XPCLikely pathogenicrs1553607773RCV000669847; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421451914214519TGT3:g.14214519_14214519del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)7508XPCBenignrs2229089RCV000122333|RCV000348650|RCV001521210; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421452414214524GA3:g.14214524G>AClinGen:CA162883,UniProtKB:Q01831#VAR_018895CN169374 not specified;
NM_004628.5(XPC):c.134A>G (p.Lys45Arg)7508XPCUncertain significancers779117189RCV000393494; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421453214214532TC3:g.14214532T>CClinGen:CA2267790C0043346 Xeroderma pigmentosum;
NM_004628.5(XPC):c.128del (p.Pro43fs)7508XPCPathogenicrs1260189637RCV000666236|RCV001090470; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421453814214538TGT3:g.14214538_14214538del-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.105T>A (p.Asp35Glu)7508XPCLikely benignrs202128104RCV001144644|RCV001445409; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421456114214561AT3:g.14214561A>T-
NM_004628.5(XPC):c.103+2T>G7508XPCLikely pathogenicrs1553608616RCV000670023; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421996414219964AC3:g.14219964A>C-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.103+1G>A7508XPCLikely pathogenicrs1423398589RCV000668920; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421996514219965CT3:g.14219965C>T-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.90GGA[6] (p.Glu34dup)7508XPCUncertain significancers750450365RCV000666792|RCV001508139; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231421996514219966CCCCT3:g.14219965_14219966insCCT-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)7508XPCUncertain significancers750450365RCV000987123; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421996614219968CCCTC3:g.14219966_14219968del-
NM_004628.5(XPC):c.102G>A (p.Glu34=)7508XPCConflicting interpretations of pathogenicityrs72561774RCV000895000|RCV001147509; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421996714219967CT3:g.14219967C>T-
NM_004628.5(XPC):c.85C>T (p.Arg29Cys)7508XPCUncertain significance-1RCV001761524; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031421998414219984GA14219984-
NM_004628.5(XPC):c.55C>T (p.Gln19Ter)7508XPCPathogenic/Likely pathogenicrs1553608637RCV000666399|RCV001038115; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231422001414220014GA3:g.14220014G>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.52A>C (p.Ser18Arg)7508XPCUncertain significancers587778757RCV000122322|RCV000671614; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422001714220017TG3:g.14220017T>GClinGen:CA162850CN169374 not specified;
NM_004628.5(XPC):c.46C>G (p.Leu16Val)7508XPCBenignrs1870134RCV000122323|RCV000333184|RCV001516006; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231422002314220023GC3:g.14220023G>CClinGen:CA162853,UniProtKB:Q01831#VAR_018894CN169374 not specified;
NM_004628.5(XPC):c.37G>C (p.Gly13Arg)7508XPCUncertain significancers201273381RCV000122324|RCV000764470|RCV001555299; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231422003214220032CG3:g.14220032C>GClinGen:CA162856CN169374 not specified;
NM_004628.5(XPC):c.26G>T (p.Gly9Val)7508XPCUncertain significance-1RCV001508140|RCV001788489; NMedGen:CN517202|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422004314220043CA14220043-
NM_004628.5(XPC):c.17C>G (p.Ala6Gly)7508XPCUncertain significancers770358796RCV001150854; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422005214220052GC3:g.14220052G>C-
NM_004628.5(XPC):c.1A>G (p.Met1Val)7508XPCConflicting interpretations of pathogenicityrs763678756RCV000666438; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422006814220068TC3:g.14220068T>C-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.1A>T (p.Met1Leu)7508XPCLikely pathogenicrs763678756RCV000671101; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422006814220068TA3:g.14220068T>A-C2752147 278720 Xeroderma pigmentosum, group C;
NM_004628.5(XPC):c.-4C>T7508XPCUncertain significancers200570610RCV000293362; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422007214220072GA3:g.14220072G>AClinGen:CA2267851
NM_004628.5(XPC):c.-27G>C7508XPCBenignrs2607775RCV000247851|RCV000346126|RCV001675730; NMedGen:CN169374|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231422009514220095CG3:g.14220095C>GClinGen:CA2267864
NM_004628.4(XPC):c.-55G>T7508XPCUncertain significancers142935792RCV000400059; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422012314220123CA3:g.14220123C>AClinGen:CA2267887
NM_004628.4(XPC):c.-58C>T7508XPCLikely benignrs573720507RCV000287706; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422012614220126GA3:g.14220126G>AClinGen:CA2267891
NM_004628.4(XPC):c.-71C>T7508XPCBenign/Likely benignrs567196401RCV000344982|RCV001547937; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:910|MedGen:CN51720231422013914220139GA3:g.14220139G>AClinGen:CA2267899
NM_001354726.1(XPC):c.-537C>G7508XPCUncertain significancers768047123RCV001150855; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422015014220150GC3:g.14220150G>C-
NM_001354726.1(XPC):c.-539C>T7508XPCUncertain significancers747342888RCV001144736; NMONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720, Orphanet:91031422015214220152GA3:g.14220152G>A-
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