ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001079.4(ZAP70):c.*29G>A rs11678558 0.27539
NM_001079.4(ZAP70):c.1482+11G>T rs17488834 0.26795
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 0.03071
NM_001079.4(ZAP70):c.447G>A (p.Val149=) rs61735392 0.00384
NM_001079.4(ZAP70):c.531T>C (p.Leu177=) rs115846138 0.00358
NM_001079.4(ZAP70):c.105G>A (p.Leu35=) rs56127120 0.00353
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079.4(ZAP70):c.-91T>A rs199757796 0.00001
NM_001079.4(ZAP70):c.-186C>A rs2276645

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