ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.2(IL2RG):c.855-1G>A rs1556329822
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000733.3(CD3E):c.103+1G>T
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925

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.