ClinVar Miner

List of variants in gene JAK3 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.*123T>C rs3008 0.52650
NM_000215.4(JAK3):c.184+40G>A rs3212712 0.42383
NM_000215.4(JAK3):c.2805+113A>G rs1122385 0.40952
NM_000215.4(JAK3):c.184+42G>A rs3212713 0.36685
NM_000215.4(JAK3):c.184+22C>T rs3212711 0.36425
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_000215.4(JAK3):c.2978+32T>C rs3212774 0.35260
NM_000215.4(JAK3):c.184+96C>T rs3212714 0.34797
NM_000215.4(JAK3):c.3097-116T>G rs2302600 0.30426
NM_000215.4(JAK3):c.3208-39G>A rs3212798 0.24059
NM_000215.4(JAK3):c.-36A>G rs7254346 0.22842
NM_000215.4(JAK3):c.862-38A>C rs3212730 0.20999
NM_000215.4(JAK3):c.3207+101C>G rs3212781 0.20686
NM_000215.4(JAK3):c.3207+75C>T rs3212780 0.20666
NM_000215.4(JAK3):c.1143-28C>T rs3212741 0.15618
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.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
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.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr) rs144968714 0.00150
NM_000215.4(JAK3):c.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.2636A>G (p.His879Arg) rs3179893 0.00086
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.187A>G (p.Ile63Val) rs144405201 0.00026
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.2350+6C>T rs200193137 0.00006
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.1899C>T (p.Tyr633=) rs538081227 0.00004
NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu) rs149047410 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_000215.4(JAK3):c.268G>A (p.Val90Met) rs1016346013 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.2978+15C>T rs587780955 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.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1830G>A (p.Met610Ile) rs587778415
NM_000215.4(JAK3):c.2358G>A (p.Glu786=) rs1057518544
NM_000215.4(JAK3):c.2731C>G (p.Arg911Gly) rs587778417
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.3281del (p.Gln1094fs) rs2147669921
NM_000215.4(JAK3):c.381T>C (p.Ala127=) rs587778418
NM_000215.4(JAK3):c.48C>T (p.Cys16=) rs1057520953
NM_000215.4(JAK3):c.566+6_566+41del rs754402855
NM_000215.4(JAK3):c.843G>C (p.Trp281Cys) rs587778419
NM_000215.4(JAK3):c.851G>A (p.Gly284Glu) rs587778420
NM_000215.4(JAK3):c.874T>G (p.Phe292Val)
NM_000215.4(JAK3):c.985-15G>A rs200067874

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.