ClinVar Miner

List of variants in gene SMCHD1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_015295.3(SMCHD1):c.4629C>T (p.Gly1543=) rs483547 0.39322
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn) rs633422 0.32971
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=) rs7239096 0.03555
NM_015295.3(SMCHD1):c.2878A>G (p.Ile960Val) rs9961682 0.03402
NM_015295.3(SMCHD1):c.3612A>T (p.Ser1204=) rs115632137 0.03072
NM_015295.3(SMCHD1):c.3802-16T>G rs79829175 0.01859
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949 0.00181
NM_015295.3(SMCHD1):c.2913+6C>G rs186678728 0.00153
NM_015295.3(SMCHD1):c.5878+12C>G rs148698681 0.00138
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_015295.3(SMCHD1):c.2063+20G>T rs368528253 0.00083
NM_015295.3(SMCHD1):c.789C>T (p.His263=) rs374899324 0.00046
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) rs766575963 0.00012
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala) rs751463286 0.00003
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015295.3(SMCHD1):c.3948G>A (p.Gln1316=) rs776456103 0.00001
NM_015295.3(SMCHD1):c.6011A>G (p.Asp2004Gly) rs374747323 0.00001
NM_015295.3(SMCHD1):c.1420T>C (p.Cys474Arg)
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.1647+28A>G
NM_015295.3(SMCHD1):c.1843-17dup rs377473058
NM_015295.3(SMCHD1):c.1918G>T (p.Glu640Ter)
NM_015295.3(SMCHD1):c.1942G>T (p.Val648Phe)
NM_015295.3(SMCHD1):c.2328del (p.Phe776fs)
NM_015295.3(SMCHD1):c.2604-7del rs142973168
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.3(SMCHD1):c.434T>C (p.Leu145Pro)
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.3(SMCHD1):c.4718T>C (p.Met1573Thr)
NM_015295.3(SMCHD1):c.5002T>C (p.Leu1668=) rs746740103
NM_015295.3(SMCHD1):c.5476+9C>T
NM_015295.3(SMCHD1):c.5738G>A (p.Arg1913His)

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