ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
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.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser) rs201497685 0.00017
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp) rs779165187 0.00009
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171 0.00006
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val) rs569470518 0.00005
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=) rs761171049 0.00004
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=) rs374039360 0.00003
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.