ClinVar Miner

List of variants in gene CD3E studied for Immunodeficiency 18

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000733.3(CD3E):c.103+1G>T
NM_000733.3(CD3E):c.176G>A (p.Trp59Ter) rs121918659
NM_000733.3(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)
NM_000733.3(CD3E):c.353-5C>A rs374456909
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) rs200258299
NM_000733.3(CD3E):c.49+3G>A rs202200315
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)
NM_000733.3(CD3E):c.520+2T>C rs483352928
NM_000733.3(CD3E):c.54C>T (p.Gly18=) rs1126924
NM_000733.3(CD3E):c.567+10G>T
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) rs141553540
NM_000733.3(CD3E):c.617G>A (p.Arg206His)

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.