ClinVar Miner

List of variants in gene GJB1 reported as likely pathogenic for Charcot-Marie-Tooth disease

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Total variants: 6
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NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663

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