List of variants reported as likely benign for T-B+ severe combined immunodeficiency due to JAK3 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)	rs3212723	0.02676
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)	rs3213409	0.00743
NM_000215.4(JAK3):c.*1197G>A	rs3213415	0.00736
NM_000215.4(JAK3):c.-26C>T	rs199713123	0.00411
NM_000215.4(JAK3):c.*937G>A	rs3212803	0.00304
NM_000215.4(JAK3):c.*299C>T	rs201718854	0.00246
NM_000215.4(JAK3):c.631A>C (p.Arg211=)	rs56269787	0.00207
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=)	rs201073968	0.00041
NM_000215.4(JAK3):c.2235G>A (p.Pro745=)	rs149207170	0.00026
NM_000215.4(JAK3):c.*1548C>T	rs191522931	0.00020
NM_000215.4(JAK3):c.*1761T>A	rs188773566	0.00011
NM_000215.4(JAK3):c.*298C>A	rs190366074	0.00006
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys)	rs200075643	0.00002
NM_000215.4(JAK3):c.2451C>T (p.Phe817=)	rs201576913	0.00001

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