ClinVar Miner

List of variants in gene GJB2 reported as pathogenic for Mutilating keratoderma

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Total variants: 2
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HGVS dbSNP
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.196G>C (p.Asp66His) rs104894403

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