ClinVar Miner

List of variants reported as pathogenic for T-B+ severe combined immunodeficiency by GeneReviews

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.2(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) rs137852508

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.