ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign

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Total variants: 25
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HGVS dbSNP
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.1957-3C>T rs201069969
NM_015295.2(SMCHD1):c.2063+20G>T rs368528253
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.2424A>C (p.Pro808=) rs374039360
NM_015295.2(SMCHD1):c.2604-7delT rs142973168
NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) rs369550628
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.333G>A (p.Thr111=) rs761171049
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.3633+10_3633+16delCTTTCTA rs1555644751
NM_015295.2(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685
NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806
NM_015295.2(SMCHD1):c.54G>C (p.Glu18Asp) rs779165187
NM_015295.2(SMCHD1):c.5646A>C (p.Pro1882=) rs557482877
NM_015295.2(SMCHD1):c.5878+12C>G rs148698681
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015295.2(SMCHD1):c.925C>G (p.Leu309Val) rs569470518

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