Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr) | 3850 | KRT3 | Uncertain significance | rs1939636114 | RCV001293776; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 12 | 53189696 | 53189697 | | | 53189696 | - | | |
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His) | 83959 | SLC4A11 | Pathogenic | rs121909392 | RCV000001374|RCV001389004; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3208905 | 3208905 | | | 20:g.3208905C>T | ClinGen:CA250444,OMIM:610206.0008 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) | 83959 | SLC4A11 | Pathogenic | rs121909391 | RCV000001372|RCV001682704; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3208906 | 3208906 | | | 20:g.3208906G>A | ClinGen:CA250442,OMIM:610206.0006 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) | 83959 | SLC4A11 | Pathogenic/Likely pathogenic | rs121909394 | RCV000001379|RCV000595591|RCV002490290; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MedGen:CN517202|MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Or | 20 | 3208983 | 3208983 | | | 20:g.3208983A>G | OMIM:610206.0012,ClinGen:CA114920 | C1857572 217400 Corneal dystrophy and perceptive deafness; | |
NM_001174089.2(SLC4A11):c.2389-9C>T | 83959 | SLC4A11 | Benign | rs41281858 | RCV000250950|RCV000405544|RCV001543184|RCV001543185|RCV001514106; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph | 20 | 3209083 | 3209083 | | | NC_000020.10:g.3209083G>A | ClinGen:CA9741469 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs) | 83959 | SLC4A11 | Pathogenic | -1 | RCV002293387; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3209179 | 3209180 | | | 3209179 | - | | |
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln) | 83959 | SLC4A11 | Pathogenic | rs121909387 | RCV000001367|RCV001851537; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3209330 | 3209330 | | | 20:g.3209330C>T | OMIM:610206.0001,ClinGen:CA250433 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.2193-18C>T | 83959 | SLC4A11 | Benign | rs2281575 | RCV000246225|RCV001808714|RCV001808713|RCV002058368; | N | MedGen:CN169374|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3209371 | 3209371 | | | 20:g.3209371G>A | ClinGen:CA9741542 | CN169374 not specified; | |
NM_001174089.2(SLC4A11):c.2192+1G>A | 83959 | SLC4A11 | Likely pathogenic | rs759540763 | RCV001060766|RCV002497443; | N | MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974 | 20 | 3209483 | 3209483 | | | 20:g.3209483C>T | - | | |
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) | 83959 | SLC4A11 | Pathogenic | rs772409032 | RCV001235975|RCV001828876|RCV002484292; | N | MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268,O | 20 | 3209536 | 3209536 | | | 20:g.3209536G>A | - | | |
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG | 83959 | SLC4A11 | Pathogenic | rs869320617 | RCV000001373; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3209663 | 3209673 | | | 20:g.3209664_3209673del | ClinGen:CA354154,OMIM:610206.0007 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.2018+1G>A | 83959 | SLC4A11 | Pathogenic | rs2067654837 | RCV001283819; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3209740 | 3209740 | | | 3209740 | - | | |
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) | 83959 | SLC4A11 | Conflicting interpretations of pathogenicity | rs138262189 | RCV001141792|RCV001844269|RCV002480528|RCV002559374; | N | Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN169374|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or | 20 | 3210034 | 3210034 | | | 20:g.3210034C>T | - | | |
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) | 83959 | SLC4A11 | Pathogenic | rs121909390 | RCV000001370|RCV000815081|RCV001273531; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490 | 20 | 3210076 | 3210076 | | | NC_000020.10:g.3210076G>A | ClinGen:CA250439,OMIM:610206.0004 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) | 83959 | SLC4A11 | Uncertain significance | rs755379986 | RCV001143598|RCV002505717; | N | Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MOND | 20 | 3210278 | 3210278 | | | 20:g.3210278G>A | - | | |
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) | 83959 | SLC4A11 | Benign | rs41281860 | RCV000254477|RCV000375014|RCV001543186|RCV001543187|RCV001516713; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orph | 20 | 3210301 | 3210301 | | | NC_000020.10:g.3210301G>A | ClinGen:CA9741780 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.1489+141T>C | 83959 | SLC4A11 | Benign | -1 | RCV001543189|RCV001543188; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490 | 20 | 3210692 | 3210692 | | | 3210692 | - | | |
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu) | 83959 | SLC4A11 | Likely pathogenic | rs121909388 | RCV000001368|RCV001851538; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3210904 | 3210904 | | | 20:g.3210904G>A | ClinGen:CA250435,OMIM:610206.0002 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp) | 83959 | SLC4A11 | Pathogenic | -1 | RCV002293386; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3210904 | 3210904 | | | 3210904 | - | | |
NM_001174089.2(SLC4A11):c.1415+97T>G | 83959 | SLC4A11 | Benign | -1 | RCV001543227|RCV001543228; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3211064 | 3211064 | | | 3211064 | - | | |
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile) | 83959 | SLC4A11 | Uncertain significance | -1 | RCV002293388; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3211185 | 3211185 | | | 3211185 | - | | |
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp) | 83959 | SLC4A11 | Pathogenic | rs121909389 | RCV000001369; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3211233 | 3211233 | | | 20:g.3211233C>T | ClinGen:CA250437,OMIM:610206.0003 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) | 83959 | SLC4A11 | Benign | rs6084312 | RCV000248066|RCV000288238|RCV001516714|RCV001543230|RCV001543229; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C185757 | 20 | 3211235 | 3211235 | | | NC_000020.10:g.3211235C>T | ClinGen:CA9741879 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.1283-11C>T | 83959 | SLC4A11 | Benign | rs41281862 | RCV000253140|RCV000352538|RCV001543232|RCV001543231|RCV002058367; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or | 20 | 3211304 | 3211304 | | | NC_000020.10:g.3211304G>A | ClinGen:CA9741898 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg) | 83959 | SLC4A11 | Likely pathogenic | -1 | RCV001379507|RCV002488197; | N | MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3211459 | 3211459 | | | 3211459 | - | | |
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg) | 83959 | SLC4A11 | Likely pathogenic | -1 | RCV001379449|RCV001779160|RCV002488196; | N | MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Or | 20 | 3211459 | 3211459 | | | 3211459 | - | | |
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter) | 83959 | SLC4A11 | Pathogenic | rs1363770105 | RCV000825571|RCV001835982|RCV001858402; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MedGen:CN517202 | 20 | 3211637 | 3211637 | | | 20:g.3211637G>T | - | | |
NM_001174089.2(SLC4A11):c.1043-15A>C | 83959 | SLC4A11 | Benign | rs3803953 | RCV000248350|RCV000348880|RCV001543234|RCV001543233|RCV001683121; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or | 20 | 3211719 | 3211719 | | | NC_000020.10:g.3211719T>G | ClinGen:CA9742010 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) | 83959 | SLC4A11 | Conflicting interpretations of pathogenicity | rs138137682 | RCV000405160|RCV000887947|RCV001579134|RCV001272054; | N | Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN517202|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Or | 20 | 3211846 | 3211846 | | | NC_000020.10:g.3211846G>A | ClinGen:CA9742043 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val) | 83959 | SLC4A11 | Uncertain significance | -1 | RCV001807933; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3212178 | 3212178 | | | 3212178 | - | | |
NM_001174089.2(SLC4A11):c.730-29_730-28insC | 83959 | SLC4A11 | Benign | -1 | RCV001807841|RCV001807840; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3212222 | 3212223 | | | 3212222 | - | | |
NM_001174089.2(SLC4A11):c.730-29T>A | 83959 | SLC4A11 | Benign | -1 | RCV001543235|RCV001543236; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3212223 | 3212223 | | | 3212223 | - | | |
NM_001174089.2(SLC4A11):c.730-31T>C | 83959 | SLC4A11 | Benign | -1 | RCV001543238|RCV001543237; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490 | 20 | 3212225 | 3212225 | | | 3212225 | - | | |
NM_001174089.2(SLC4A11):c.729+140C>A | 83959 | SLC4A11 | Benign | -1 | RCV001543239|RCV001543240; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3214020 | 3214020 | | | 3214020 | - | | |
NM_001174089.2(SLC4A11):c.729+34G>A | 83959 | SLC4A11 | Benign | -1 | RCV001543242|RCV001543241; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490 | 20 | 3214126 | 3214126 | | | 3214126 | - | | |
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) | 83959 | SLC4A11 | Uncertain significance | -1 | RCV001910541|RCV002484541; | N | MedGen:CN517202|MONDO:MONDO:0013204,MedGen:C2750450,OMIM:613268, Orphanet:98974; MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490; MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3214217 | 3214218 | | | 3214217 | - | | |
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys) | 83959 | SLC4A11 | Uncertain significance | -1 | RCV001807973; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3214240 | 3214240 | | | 3214240 | - | | |
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=) | 83959 | SLC4A11 | Benign | rs3803956 | RCV000250649|RCV000360144|RCV001543280|RCV001517386|RCV001543279; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C185757 | 20 | 3214581 | 3214581 | | | NC_000020.10:g.3214581C>T | ClinGen:CA9742223 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs) | 83959 | SLC4A11 | Pathogenic | rs797045107 | RCV000190625|RCV002460964; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3214819 | 3214827 | | | NC_000020.10:g.3214819_3214827delinsG | ClinGen:CA251305 | C1857569 217700 Corneal endothelial dystrophy type 2; | |
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) | 83959 | SLC4A11 | Conflicting interpretations of pathogenicity | rs3827075 | RCV000245921|RCV000384700|RCV001543282|RCV001516715|RCV001543281; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202|MONDO:MONDO:0009015,MedGen:C185757 | 20 | 3214819 | 3214819 | | | 20:g.3214819T>G | ClinGen:CA9742290 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr) | 83959 | SLC4A11 | Uncertain significance | rs752287261 | RCV000490343|RCV002517443; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3214822 | 3214822 | | | NC_000020.10:g.3214822C>T | ClinGen:CA9742292 | C1857569 217700 Corneal endothelial dystrophy type 2; | |
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys) | 83959 | SLC4A11 | Conflicting interpretations of pathogenicity | -1 | RCV001379450|RCV001731210|RCV001826154; | N | MedGen:CN517202|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490 | 20 | 3214873 | 3214873 | | | 3214873 | - | | |
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs) | 83959 | SLC4A11 | Pathogenic | rs869320720 | RCV000001371; | N | MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3214944 | 3214947 | | | NC_000020.10:g.3214946_3214949del | ClinGen:CA358680,OMIM:610206.0005 | C0544008 Corneal endothelial dystrophy; | |
NM_001174089.2(SLC4A11):c.292-86G>C | 83959 | SLC4A11 | Benign | -1 | RCV001543283|RCV001543284; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3215046 | 3215046 | | | 3215046 | - | | |
NM_001174089.2(SLC4A11):c.291+126G>A | 83959 | SLC4A11 | Benign | -1 | RCV001543285|RCV001543286; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3215088 | 3215088 | | | 3215088 | - | | |
NM_001174089.2(SLC4A11):c.88+201A>C | 83959 | SLC4A11 | Benign | -1 | RCV001543289|RCV001543290; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3217989 | 3217989 | | | 3217989 | - | | |
NM_001174089.2(SLC4A11):c.88+189G>A | 83959 | SLC4A11 | Benign | -1 | RCV001543291|RCV001543292; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3218001 | 3218001 | | | 3218001 | - | | |
NM_001174089.2(SLC4A11):c.44-121G>C | 83959 | SLC4A11 | Benign | rs3827076 | RCV000338145|RCV001543293|RCV001543294; | N | Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3218355 | 3218355 | | | NC_000020.10:g.3218355C>G | ClinGen:CA9742511 | CN239343 Corneal Dystrophy, Recessive; | |
NM_001174089.2(SLC4A11):c.44-400C>G | 83959 | SLC4A11 | Benign | -1 | RCV001543326|RCV001543327|RCV001779253; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603|MedGen:CN517202 | 20 | 3218634 | 3218634 | | | 3218634 | - | | |
NM_001400277.1(SLC4A11):c.-15+100T>C | 83959 | SLC4A11 | Benign | -1 | RCV001543328|RCV001543329; | N | MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400, Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700, Orphanet:293603 | 20 | 3219894 | 3219894 | | | 3219894 | - | | |