ClinVar Miner

List of variants in gene JAK3 reported as benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.*123T>C rs3008 0.52650
NM_000215.4(JAK3):c.*1926A>G rs11888 0.38087
NM_000215.4(JAK3):c.*654A>T rs71332114 0.28246
NM_000215.4(JAK3):c.*448C>A rs3212802 0.25138
NM_000215.4(JAK3):c.-36A>G rs7254346 0.22842
NM_000215.4(JAK3):c.*1293C>T rs73014967 0.17398
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
NM_000215.4(JAK3):c.*36G>A rs3212799 0.01948
NM_000215.4(JAK3):c.*1319G>A rs118101939 0.01432
NM_000215.4(JAK3):c.*1422G>A rs79972191 0.01316
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.2806-13C>T rs193156379 0.00498
NM_000215.4(JAK3):c.*252A>T rs79044512 0.00470
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_000215.4(JAK3):c.*1038A>G rs373917722 0.00104
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_000215.3(JAK3):c.*1965_*1966insGT rs10672762
NM_000215.3(JAK3):c.*1966_*1967delTT rs10580414
NM_000215.4(JAK3):c.*138G>C rs3212800
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363

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