ClinVar Miner

List of variants studied for Combined immunodeficiency due to ZAP70 deficiency; Autoimmune disease, multisystem, infantile-onset, 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) rs150950017 0.00036
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517

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