ClinVar Miner

List of variants reported as benign for combined immunodeficiency due to CD3gamma deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000073.3(CD3G):c.390T>C (p.Ala130=) rs3753059 0.16289
NM_000073.3(CD3G):c.391G>T (p.Val131Phe) rs3753058 0.16277
NM_000073.3(CD3G):c.*244A>G rs45508093 0.12672
NM_000073.3(CD3G):c.64G>A (p.Ala22Thr) rs139781104 0.00294
NM_000073.3(CD3G):c.79+10A>G rs115851096 0.00266
NM_000073.3(CD3G):c.439+11G>A rs187746068 0.00149
NM_000073.3(CD3G):c.496C>A (p.Arg166=) rs201529449 0.00022
NM_000073.3(CD3G):c.*453G>T rs45477194
NM_000073.3(CD3G):c.390_391delinsCT (p.Val131Phe) rs71469175
NM_000073.3(CD3G):c.440-7del rs747939880

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.