List of variants reported as likely pathogenic for Scapulohumeral muscular dystrophy by Institute of Human Genetics, University of Wuerzburg

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	rs886044914
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	rs1568280995
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)	rs1204021010
NM_015295.3(SMCHD1):c.4966+5G>A	rs1598426626
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)	rs867104086

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