ClinVar Miner

List of variants in gene SMOC1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_001034852.3(SMOC1):c.584-2A>G rs772178551 0.00004
NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter) rs370866589 0.00003
NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr) rs1326644602
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) rs3742909
NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro) rs1114167455
NM_001034852.3(SMOC1):c.378+1G>A rs751356341
NM_001034852.3(SMOC1):c.378+1G>T rs751356341
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter) rs1344296865
NM_001034852.3(SMOC1):c.664+1G>A rs863223317

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.