List of variants reported as pathogenic for T-B+ severe combined immunodeficiency due to JAK3 deficiency by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)	rs137852625	0.00001
JAK3, 151-BP DEL
NM_000215.4(JAK3):c.1178dup (p.Ser394fs)	rs2094235007
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)	rs137852626
NM_000215.4(JAK3):c.172_174del (p.Ala58del)	rs137852627
NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys)	rs137852624
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu)	rs147181709

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