ClinVar Miner

List of variants in gene JAK3 reported as benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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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.3096+18A>G rs2302603 0.36048
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.394C>A (p.Pro132Thr) rs3212723 0.02676
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.1254+20G>A rs3212742 0.01436
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.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
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.631A>C (p.Arg211=) rs56269787 0.00207
NM_000215.4(JAK3):c.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.1995C>T (p.Pro665=) rs3212768 0.00108
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.1710G>A (p.Leu570=) rs3212755 0.00098
NM_000215.4(JAK3):c.2079C>T (p.Pro693=) rs145377049 0.00096
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.2806-20C>G rs199653549 0.00069
NM_000215.4(JAK3):c.2862C>T (p.Asn954=) rs199553891 0.00066
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
NM_000215.4(JAK3):c.1020G>A (p.Ser340=) rs201997916 0.00018
NM_000215.4(JAK3):c.3007A>G (p.Ile1003Val) rs137901277 0.00010
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.1915-20C>T rs564212195 0.00001
NM_000215.4(JAK3):c.2451C>T (p.Phe817=) rs201576913 0.00001
NM_000215.4(JAK3):c.*138G>C rs3212800
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1255-17del
NM_000215.4(JAK3):c.1255-19_1255-17dup rs749079957
NM_000215.4(JAK3):c.1441+9del
NM_000215.4(JAK3):c.1702-3del
NM_000215.4(JAK3):c.1786+13dup rs761961495
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.2805+11dup
NM_000215.4(JAK3):c.2805+17dup rs2147676559
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.308+16dup rs3212717
NM_000215.4(JAK3):c.567-15del
NM_000215.4(JAK3):c.862-11dup

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