ClinVar Miner

List of variants in gene SLC4A11 reported as pathogenic for corneal dystrophy-perceptive deafness syndrome

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Total variants: 9
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HGVS dbSNP
NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr) rs869320722
NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys) rs121909393
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter) rs121909390
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val) rs121909396
NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs) rs869320721
NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro) rs121909395
SLC4A11, 32-BP DEL, NT2423
SLC4A11, 8-BP DUP, NT2233

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