ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1040+1G>A rs1245372794
NM_015295.2(SMCHD1):c.1302_1306del (p.Tyr434Terfs) rs387907319
NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422
NM_015295.2(SMCHD1):c.1608del (p.Asp537Ilefs) rs1057519614
NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser) rs397514623
NM_015295.2(SMCHD1):c.3484C>T (p.Gln1162Ter) rs1555644339
NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.2(SMCHD1):c.4104delC (p.Val1369Phefs) rs1555647265
NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.2(SMCHD1):c.4821dup (p.Ile1608Tyrfs)
SMCHD1, IVS29DS, G-A, +1
SMCHD1, THR1522THR

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