ClinVar Miner

List of variants reported as benign for Immunodeficiency 18 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000733.3(CD3E):c.-112G>A rs2231440 0.25571
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_000733.4(CD3E):c.*55C>A rs2231450 0.05808
NM_000733.4(CD3E):c.*48C>A rs2231449 0.02215
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) rs35299792 0.00427
NM_000733.4(CD3E):c.216T>C (p.Asp72=) rs2231444 0.00121

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.