ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471

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