ClinVar Miner

List of variants in gene SMCHD1 reported by Harvard Reproductive Endocrine Science Center,Massachusetts General Hospital

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Total variants: 20
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.2(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.2(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.2(SMCHD1):c.1259A>T (p.Asp420Val) rs1135402742
NM_015295.2(SMCHD1):c.1417G>C (p.Glu473Gln) rs1135402743
NM_015295.2(SMCHD1):c.1568C>A (p.Thr523Lys) rs1135402744
NM_015295.2(SMCHD1):c.1571A>G (p.Asn524Ser) rs1135402745
NM_015295.2(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015295.2(SMCHD1):c.320T>C (p.Leu107Pro) rs1135402737
NM_015295.2(SMCHD1):c.386T>A (p.Met129Lys) rs1135402738
NM_015295.2(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.2(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.2(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.2(SMCHD1):c.415A>C (p.Asn139His) rs1135402739
NM_015295.2(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.2(SMCHD1):c.423G>T (p.Leu141Phe) rs1057519641
NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015295.2(SMCHD1):c.725C>G (p.Ala242Gly) rs1135402741

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