ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency due to gamma chain deficiency by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.3(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.3(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.3(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.3(IL2RG):c.454+1G>A rs1569480018
NM_000206.3(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.3(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.3(IL2RG):c.923C>A (p.Ser308Ter) rs137852509

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.