ClinVar Miner

List of variants in gene CD3D reported as benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000732.6(CD3D):c.451-18T>G rs2276424 0.61431
NM_000732.6(CD3D):c.406+18G>A rs28606580 0.01380
NM_000732.6(CD3D):c.*59C>T rs113271462 0.00716
NM_000732.6(CD3D):c.56-17T>C rs202077439 0.00047
NM_000732.6(CD3D):c.510C>T (p.Asn170=) rs146997233 0.00008
NM_000732.6(CD3D):c.275-18T>C rs200238286 0.00005

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.