ClinVar Miner

List of variants in gene JAK3 reported by ITMI

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Total variants: 25
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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.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr) rs144968714 0.00150
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn) rs373046546 0.00013
NM_000215.4(JAK3):c.3207+73G>A rs536358097 0.00009
NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln) rs145751599 0.00005
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000215.4(JAK3):c.1561C>G (p.Leu521Val) rs55666418 0.00004
NM_000215.4(JAK3):c.1610G>A (p.Arg537Gln) rs587778413 0.00004
NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu) rs149047410 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_000215.4(JAK3):c.1441+262C>A rs587777948 0.00001
NM_000215.4(JAK3):c.1739C>T (p.Ser580Leu) rs587778414 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000215.4(JAK3):c.58T>A (p.Ser20Thr) rs199773433 0.00001
NM_000215.4(JAK3):c.94G>A (p.Ala32Thr) rs587778416 0.00001
NM_000215.4(JAK3):c.991G>A (p.Glu331Lys) rs201387977 0.00001
NM_000215.4(JAK3):c.1830G>A (p.Met610Ile) rs587778415
NM_000215.4(JAK3):c.2731C>G (p.Arg911Gly) rs587778417
NM_000215.4(JAK3):c.381T>C (p.Ala127=) rs587778418
NM_000215.4(JAK3):c.843G>C (p.Trp281Cys) rs587778419
NM_000215.4(JAK3):c.851G>A (p.Gly284Glu) rs587778420

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