ClinVar Miner

List of variants in gene GJB2 studied for Keratitis-ichthyosis-deafness syndrome, autosomal dominant

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Total variants: 6
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NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
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.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485

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