List of variants studied for combined immunodeficiency due to ZAP70 deficiency by GeneReviews

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)	rs869025224	0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)	rs113994174	0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)	rs199840952	0.00001
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=)	rs201207626
NM_001079.4(ZAP70):c.1624-11G>A	rs730880318
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu)	rs113994175
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln)	rs113994172
NM_001079.4(ZAP70):c.838-80G>A	rs113994173

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