ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for Palmoplantar keratoderma-deafness syndrome

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Total variants: 5
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NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741

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