ClinVar Miner

List of variants studied for X-linked hereditary motor and sensory neuropathy by Mendelics

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Total variants: 5
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NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825

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