ClinVar Miner

List of variants in gene SMCHD1 reported by PreventionGenetics

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Total variants: 29
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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.1689G>A (p.Leu563=) rs78073508
NM_015295.2(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.2(SMCHD1):c.1851A>G (p.Thr617=) rs635132
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.2122G>A (p.Val708Ile) rs2276092
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.2604-7del rs142973168
NM_015295.2(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422
NM_015295.2(SMCHD1):c.2878A>G (p.Ile960Val) rs9961682
NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) rs369550628
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477
NM_015295.2(SMCHD1):c.3612A>T (p.Ser1204=) rs115632137
NM_015295.2(SMCHD1):c.3802-16T>G rs79829175
NM_015295.2(SMCHD1):c.399T>C (p.Tyr133=) rs7239096
NM_015295.2(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949
NM_015295.2(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.4629C>T (p.Gly1543=) rs483547
NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.2(SMCHD1):c.4967-15G>T rs300291
NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806
NM_015295.2(SMCHD1):c.5476+10A>G rs3213926
NM_015295.2(SMCHD1):c.5878+12C>G rs148698681
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061

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