ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.263C>T (p.Ala88Val) rs1555341945
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485

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