ClinVar Miner

List of variants in gene SMCHD1 reported as uncertain significance by Invitae

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Total variants: 38
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HGVS dbSNP
NC_000018.9:g.(?_2656055)_(2656280_?)dup
NM_015295.2(SMCHD1):c.1202C>T (p.Thr401Met) rs1555632935
NM_015295.2(SMCHD1):c.1326T>G (p.Asp442Glu)
NM_015295.2(SMCHD1):c.1390G>T (p.Ala464Ser) rs752328609
NM_015295.2(SMCHD1):c.1525A>G (p.Ile509Val)
NM_015295.2(SMCHD1):c.15C>A (p.Asp5Glu) rs769401596
NM_015295.2(SMCHD1):c.162G>A (p.Ala54=)
NM_015295.2(SMCHD1):c.1971A>G (p.Leu657=)
NM_015295.2(SMCHD1):c.2506C>T (p.Arg836Cys)
NM_015295.2(SMCHD1):c.2612C>A (p.Ser871Tyr) rs372975122
NM_015295.2(SMCHD1):c.2660G>C (p.Gly887Ala) rs1460743863
NM_015295.2(SMCHD1):c.2731T>A (p.Leu911Ile) rs770371694
NM_015295.2(SMCHD1):c.3148A>T (p.Ile1050Phe) rs1568260824
NM_015295.2(SMCHD1):c.3245A>G (p.Asn1082Ser) rs756368420
NM_015295.2(SMCHD1):c.3251C>T (p.Thr1084Ile) rs371392245
NM_015295.2(SMCHD1):c.3260T>C (p.Leu1087Ser) rs930009782
NM_015295.2(SMCHD1):c.3361A>G (p.Met1121Val)
NM_015295.2(SMCHD1):c.3563C>G (p.Pro1188Arg)
NM_015295.2(SMCHD1):c.3841A>G (p.Ile1281Val) rs201059575
NM_015295.2(SMCHD1):c.3971G>A (p.Arg1324Lys) rs1555647170
NM_015295.2(SMCHD1):c.4078A>G (p.Met1360Val) rs1345271914
NM_015295.2(SMCHD1):c.4105G>A (p.Val1369Ile) rs375198512
NM_015295.2(SMCHD1):c.4108C>G (p.Arg1370Gly) rs942559171
NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171
NM_015295.2(SMCHD1):c.4178G>C (p.Ser1393Thr) rs369758530
NM_015295.2(SMCHD1):c.4255A>G (p.Thr1419Ala) rs191487554
NM_015295.2(SMCHD1):c.4441G>A (p.Val1481Ile)
NM_015295.2(SMCHD1):c.4598T>C (p.Leu1533Ser) rs368255259
NM_015295.2(SMCHD1):c.4601T>C (p.Val1534Ala) rs1555650440
NM_015295.2(SMCHD1):c.473G>A (p.Arg158His) rs531460906
NM_015295.2(SMCHD1):c.4774G>T (p.Val1592Leu)
NM_015295.2(SMCHD1):c.482G>T (p.Gly161Val)
NM_015295.2(SMCHD1):c.4894C>G (p.Gln1632Glu) rs1365539591
NM_015295.2(SMCHD1):c.5335A>G (p.Ile1779Val)
NM_015295.2(SMCHD1):c.5356G>A (p.Asp1786Asn)
NM_015295.2(SMCHD1):c.5775T>A (p.Asp1925Glu) rs374989057
NM_015295.2(SMCHD1):c.5812A>G (p.Met1938Val)
NM_015295.2(SMCHD1):c.920A>G (p.His307Arg) rs755508169

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