ClinVar Miner

List of variants studied for X-linked hereditary motor and sensory neuropathy by Athena Diagnostics Inc

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Total variants: 5
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HGVS dbSNP
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362

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