ClinVar Miner

List of variants in gene SMCHD1 reported as likely pathogenic by Institute of Human Genetics, University of Wuerzburg

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del) rs886044914
NM_015295.3(SMCHD1):c.261del (p.Phe87fs) rs2143801614
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.3927+2dup rs2075481193
NM_015295.3(SMCHD1):c.4966+5G>A rs1598426626
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys) rs867104086

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