ClinVar Miner

List of variants in gene JAK3 reported as likely pathogenic for T-B+ severe combined immunodeficiency due to JAK3 deficiency

Included ClinVar conditions (1):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000215.4(JAK3):c.1208G>A (p.Arg403His) rs1599876167 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NC_000019.9:g.(?_17944409)_(17945894_?)del
NM_000215.4(JAK3):c.1106T>C (p.Leu369Pro)
NM_000215.4(JAK3):c.1205G>A (p.Arg402His)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1289T>C (p.Ile430Thr)
NM_000215.4(JAK3):c.1441+1G>T
NM_000215.4(JAK3):c.1583G>A (p.Gly528Asp)
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.1786+1G>A
NM_000215.4(JAK3):c.1786+2_1786+5del
NM_000215.4(JAK3):c.1914+1G>A rs936493226
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.2350+1G>C
NM_000215.4(JAK3):c.2350+1G>T
NM_000215.4(JAK3):c.2490+1G>T rs2147678827
NM_000215.4(JAK3):c.2652C>T (p.Val884=) rs2094216237
NM_000215.4(JAK3):c.2670C>G (p.Ser890Arg)
NM_000215.4(JAK3):c.2680+89G>A
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
NM_000215.4(JAK3):c.2806-2A>C
NM_000215.4(JAK3):c.2978+1G>C
NM_000215.4(JAK3):c.308+2T>C
NM_000215.4(JAK3):c.3096+1G>T
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.420+2T>C
NM_000215.4(JAK3):c.437T>G (p.Val146Gly)

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