ClinVar Miner

List of variants reported as likely pathogenic for Scapulohumeral muscular dystrophy

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Total variants: 5
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1286_1288ATC[1] (p.His430del) rs886044914
NM_015295.2(SMCHD1):c.3529G>T (p.Asp1177Tyr) rs1568280995
NM_015295.2(SMCHD1):c.3679G>C (p.Gly1227Arg) rs1204021010
NM_015295.2(SMCHD1):c.4966+5G>A
NM_015295.2(SMCHD1):c.790G>A (p.Glu264Lys)

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