ClinVar Miner

List of variants in gene SMCHD1 reported as uncertain significance for Scapulohumeral muscular dystrophy

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Total variants: 6
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NM_015295.2(SMCHD1):c.1172A>G (p.Asn391Ser) rs1598331615
NM_015295.2(SMCHD1):c.2384T>C (p.Val795Ala) rs1480135119
NM_015295.2(SMCHD1):c.3097A>G (p.Ser1033Gly) rs1598380521
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.694A>G (p.Ile232Val) rs1568143698
NM_015295.2(SMCHD1):c.89T>G (p.Leu30Trp) rs1598264942

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