ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign for Facioscapulohumeral muscular dystrophy 2

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Total variants: 5
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NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.3633+10_3633+16del rs1555644751
NM_015295.2(SMCHD1):c.5646A>C (p.Pro1882=) rs557482877

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