ClinVar Miner

List of variants in gene SMCHD1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422 0.00001
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg) rs1057519639
NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg) rs1057519640
NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu) rs1057519642
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer) rs387907319
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs) rs1057519614
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser) rs397514623
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs) rs2074549354
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter) rs2075308386
NM_015295.3(SMCHD1):c.3801+1G>A rs886042417
NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys) rs1057519645
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile) rs1057519646
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu) rs1057519644
NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe) rs1057519641
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=) rs1598416221
NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)

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.