ClinVar Miner

List of variants in gene ZAP70 reported as benign for Combined immunodeficiency due to ZAP70 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.-186C>A rs2276645 0.50000
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001079.4(ZAP70):c.1482+11G>T rs17488834 0.26795
NM_001079.4(ZAP70):c.*29G>A rs11678558 0.26752
NM_001079.4(ZAP70):c.563+13C>G rs2289918 0.15954
NM_001079.4(ZAP70):c.*289G>C rs2278699 0.14427
NM_001079.4(ZAP70):c.-59T>C rs55637939 0.02864
NM_001079.4(ZAP70):c.105G>A (p.Leu35=) rs56127120 0.00451
NM_001079.4(ZAP70):c.447G>A (p.Val149=) rs61735392 0.00384
NM_001079.4(ZAP70):c.531T>C (p.Leu177=) rs115846138 0.00335
NM_001079.4(ZAP70):c.-91T>A rs199757796 0.00073

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.