ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.672C>T (p.Pro224=) rs56340622 0.01110
NM_001079.4(ZAP70):c.810C>T (p.Leu270=) rs143181735 0.00272
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_001079.4(ZAP70):c.-177C>A rs56408911 0.00076
NM_001079.4(ZAP70):c.474C>T (p.His158=) rs56404668
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg) rs145218891

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