ClinVar Miner

List of variants in gene JAK3 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_000215.4(JAK3):c.1915-30C>T rs2072496 0.10048
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_000215.4(JAK3):c.2350+6C>T rs200193137 0.00006
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.268G>A (p.Val90Met) rs1016346013 0.00002
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.1073TCT[1] (p.Phe359del) rs1555745343
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.1915-11G>A
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp) rs1265005806
NM_000215.4(JAK3):c.3281del (p.Gln1094fs) rs2147669921
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.874T>G (p.Phe292Val)

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