ClinVar Miner

List of variants in gene JAK3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
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.*73T>C rs149873298 0.00605
NM_000215.4(JAK3):c.631A>C (p.Arg211=) rs56269787 0.00207
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile) rs138143146 0.00006
NM_000215.4(JAK3):c.2529G>A (p.Pro843=) rs775003661 0.00002
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.2163C>T (p.Gly721=) rs200715301 0.00001
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000215.4(JAK3):c.2624T>A (p.Leu875His)
NM_000215.4(JAK3):c.291C>T (p.Val97=)
NM_000215.4(JAK3):c.3289A>C (p.Met1097Leu)
NM_000215.4(JAK3):c.668G>A (p.Arg223His)
NM_000215.4(JAK3):c.741A>C (p.Pro247=)
NM_000215.4(JAK3):c.744C>G (p.Ala248=)

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