ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign by Preventiongenetics, part of Exact Sciences

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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.424+10C>T rs201631086 0.00225
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
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.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015295.3(SMCHD1):c.2604-7del rs142973168
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247

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