ClinVar Miner

List of variants in gene combination LOC130005165, STIM1 reported as uncertain significance for combined immunodeficiency due to STIM1 deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.13G>A (p.Val5Ile) rs150529970
NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn) rs2090364498
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile) rs1060499904

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.