ClinVar Miner

List of variants reported as likely pathogenic for X-linked hereditary motor and sensory neuropathy

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Total variants: 7
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NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser) rs1602348782
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663

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