ClinVar Miner

List of variants in gene SMCHD1 studied for not specified

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Total variants: 47
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HGVS dbSNP
NM_015295.2(SMCHD1):c.*7A>G rs140650738
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.2147-5C>T rs184984483
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.2424A>C (p.Pro808=) rs374039360
NM_015295.2(SMCHD1):c.2604-7del rs142973168
NM_015295.2(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422
NM_015295.2(SMCHD1):c.263A>G (p.Asp88Gly) rs200521548
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.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.321A>G (p.Leu107=) rs567120742
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.3519A>G (p.Ile1173Met) rs536643888
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.3872A>G (p.Asn1291Ser) rs201497685
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.4108C>T (p.Arg1370Cys) rs942559171
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.473G>A (p.Arg158His) rs531460906
NM_015295.2(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750
NM_015295.2(SMCHD1):c.4847-6delT rs763328487
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.54G>C (p.Glu18Asp) rs779165187
NM_015295.2(SMCHD1):c.5878+12C>G rs148698681
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015295.2(SMCHD1):c.758T>C (p.Ile253Thr) rs1057518622
NM_015295.2(SMCHD1):c.873+7T>C rs114242799
NM_015295.2(SMCHD1):c.925C>G (p.Leu309Val) rs569470518

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