ClinVar Miner

List of variants in gene JAK3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 159
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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.*1926A>G rs11888 0.38087
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.3096+139G>C rs2302601 0.30363
NM_000215.4(JAK3):c.*654A>T rs71332114 0.28147
NM_000215.4(JAK3):c.*448C>A rs3212802 0.25138
NM_000215.4(JAK3):c.1787-334A>G rs3212764 0.24712
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.3208-67G>A rs3212797 0.20339
NM_000215.4(JAK3):c.*1293C>T rs73014967 0.17398
NM_000215.4(JAK3):c.2978+210C>T rs3212779 0.17321
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.2681-320G>A rs2071183 0.11596
NM_000215.4(JAK3):c.3207+212G>A rs60485073 0.10477
NM_000215.4(JAK3):c.861+195T>C rs867174 0.10145
NM_000215.4(JAK3):c.1915-30C>T rs2072496 0.10048
NM_000215.4(JAK3):c.3096+58A>G rs2302602 0.07839
NM_000215.4(JAK3):c.1701+83A>G rs3212753 0.06539
NM_000215.4(JAK3):c.862-21G>A rs3212731 0.04897
NM_000215.4(JAK3):c.1786+91C>A rs3212756 0.04874
NM_000215.4(JAK3):c.862-107A>G rs3212729 0.04719
NM_000215.4(JAK3):c.862-274G>T rs7247763 0.04710
NM_000215.4(JAK3):c.1143-339C>T rs3212739 0.03794
NM_000215.4(JAK3):c.1255-48G>A rs35060213 0.03622
NM_000215.4(JAK3):c.1442-263A>G rs3212748 0.03474
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000215.4(JAK3):c.2681-201C>T rs3212772 0.02731
NM_000215.4(JAK3):c.309-114A>C rs3212720 0.02681
NM_000215.4(JAK3):c.420+40T>C rs3212725 0.02680
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000215.4(JAK3):c.308+62G>A rs3212718 0.02675
NM_000215.4(JAK3):c.420+59A>G rs3212726 0.02674
NM_000215.4(JAK3):c.308+92G>A rs3212719 0.02672
NM_000215.4(JAK3):c.984+44G>A rs3212732 0.02649
NM_000215.4(JAK3):c.1255-79A>G rs370696028 0.02585
NM_000215.4(JAK3):c.862-252G>C rs7247752 0.02506
NM_000215.4(JAK3):c.297G>C (p.Leu99=) rs3212716 0.02446
NM_000215.4(JAK3):c.1142+134G>C rs3213407 0.02197
NM_000215.4(JAK3):c.184+97G>A rs3212715 0.02188
NM_000215.4(JAK3):c.2978+78C>T rs3212776 0.02023
NM_000215.4(JAK3):c.2978+53C>T rs3212775 0.02015
NM_000215.4(JAK3):c.1255-35G>A rs3212745 0.02004
NM_000215.4(JAK3):c.*36G>A rs3212799 0.01948
NM_000215.4(JAK3):c.1142+207C>A rs3212735 0.01831
NM_000215.4(JAK3):c.2978+88G>T rs527281163 0.01772
NM_000215.4(JAK3):c.420+31G>T rs3212724 0.01771
NM_000215.4(JAK3):c.2351-58C>G rs73922623 0.01554
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.1787-84C>T rs28493430 0.01388
NM_000215.4(JAK3):c.2805+71C>T rs73020668 0.01216
NM_000215.4(JAK3):c.2978+110C>T rs3212778 0.01199
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.566+73G>A rs3212727 0.01031
NM_000215.4(JAK3):c.1441+131T>C rs3212746 0.01027
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000215.4(JAK3):c.1786+14A>C rs756976635 0.00925
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.3208-74C>T rs115332460 0.00548
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.-26C>T rs199713123 0.00411
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_000215.4(JAK3):c.*299C>T rs201718854 0.00246
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.3268G>A (p.Ala1090Thr) rs144968714 0.00150
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
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.1914+10C>T rs200964315 0.00006
NM_000215.4(JAK3):c.1005G>A (p.Leu335=) rs202231447 0.00005
NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln) rs145751599 0.00005
NM_000215.4(JAK3):c.1073T>G (p.Phe358Cys) rs200863318 0.00004
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys) rs201241352 0.00004
NM_000215.4(JAK3):c.2503A>T (p.Ser835Cys) rs201966394 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000215.4(JAK3):c.2919G>A (p.Leu973=) rs769510241 0.00003
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.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.1786+16C>T rs1458827267 0.00001
NM_000215.4(JAK3):c.2163C>T (p.Gly721=) rs200715301 0.00001
NM_000215.4(JAK3):c.218T>G (p.Leu73Arg) rs1064793156 0.00001
NM_000215.4(JAK3):c.267C>A (p.Ser89=) rs754716735 0.00001
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys) rs761583890 0.00001
NM_000215.4(JAK3):c.308G>A (p.Arg103His) rs774202259 0.00001
NM_000215.4(JAK3):c.3208-1G>A rs1160856608 0.00001
NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys) rs752088869 0.00001
NM_000215.4(JAK3):c.349C>T (p.Arg117Cys) rs201233697 0.00001
NM_000215.4(JAK3):c.424C>T (p.Arg142Cys) rs773590163 0.00001
NM_000215.4(JAK3):c.431A>T (p.Asp144Val) rs1486760100 0.00001
NM_000215.4(JAK3):c.532G>A (p.Ala178Thr) rs759903379 0.00001
NM_000215.4(JAK3):c.*138G>C rs3212800
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.*841_*842dup rs34803277
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000215.4(JAK3):c.1073TCT[1] (p.Phe359del) rs1555745343
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.1143-273dup rs11447311
NM_000215.4(JAK3):c.1152T>A (p.Phe384Leu) rs1599876253
NM_000215.4(JAK3):c.115del (p.Gln39fs) rs755706305
NM_000215.4(JAK3):c.1178dup (p.Ser394fs) rs2094235007
NM_000215.4(JAK3):c.1255-202G>A rs3212743
NM_000215.4(JAK3):c.1255-94dup rs71164315
NM_000215.4(JAK3):c.1269T>C (p.Pro423=) rs1555744931
NM_000215.4(JAK3):c.1414A>G (p.Thr472Ala)
NM_000215.4(JAK3):c.1432dup (p.Arg478fs) rs769633203
NM_000215.4(JAK3):c.1459G>A (p.Val487Met) rs2147689016
NM_000215.4(JAK3):c.1701+5G>A
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1786+144_1786+147del rs3212757
NM_000215.4(JAK3):c.1786+17C>T rs2094226037
NM_000215.4(JAK3):c.1914+77G>C
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.2331C>A (p.Leu777=)
NM_000215.4(JAK3):c.2340C>A (p.Leu780=)
NM_000215.4(JAK3):c.2478A>C (p.Ser826=) rs1599868483
NM_000215.4(JAK3):c.2615T>C (p.Ile872Thr) rs2094216320
NM_000215.4(JAK3):c.2624T>A (p.Leu875His)
NM_000215.4(JAK3):c.2643T>C (p.Asp881=) rs1599868171
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.291C>T (p.Val97=)
NM_000215.4(JAK3):c.2978+100T>C rs3212777
NM_000215.4(JAK3):c.2979-234del rs35483219
NM_000215.4(JAK3):c.309-113C>A rs3212721
NM_000215.4(JAK3):c.309-89G>A rs3212722
NM_000215.4(JAK3):c.3207+326dup rs59186613
NM_000215.4(JAK3):c.3207+336del rs59186613
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp) rs1265005806
NM_000215.4(JAK3):c.3289A>C (p.Met1097Leu)
NM_000215.4(JAK3):c.527_528del (p.Glu176fs) rs1064795657
NM_000215.4(JAK3):c.668G>A (p.Arg223His)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.741A>C (p.Pro247=)
NM_000215.4(JAK3):c.744C>G (p.Ala248=)
NM_000215.4(JAK3):c.835A>T (p.Ile279Phe)
NM_000215.4(JAK3):c.862-2A>G rs1057523762
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517

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