ClinVar Miner

List of variants in gene JAK3 reported as likely 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: 614
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
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.*1197G>A rs3213415 0.00736
NM_000215.4(JAK3):c.-26C>T rs199713123 0.00411
NM_000215.4(JAK3):c.*937G>A rs3212803 0.00304
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.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.1131C>T (p.His377=) rs55802448 0.00098
NM_000215.4(JAK3):c.2636A>G (p.His879Arg) rs3179893 0.00086
NM_000215.4(JAK3):c.1786+6A>T rs372156975 0.00074
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000215.4(JAK3):c.184+17T>C rs200903837 0.00031
NM_000215.4(JAK3):c.2316C>A (p.Ala772=) rs139268535 0.00027
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
NM_000215.4(JAK3):c.2372C>A (p.Pro791His) rs1413703588 0.00026
NM_000215.4(JAK3):c.*1548C>T rs191522931 0.00020
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000215.4(JAK3):c.648G>C (p.Thr216=) rs200376035 0.00019
NM_000215.4(JAK3):c.1632G>T (p.Val544=) rs779887883 0.00018
NM_000215.4(JAK3):c.1569+14G>A rs200624424 0.00016
NM_000215.4(JAK3):c.2412T>C (p.Asn804=) rs368403369 0.00015
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000215.4(JAK3):c.*1761T>A rs188773566 0.00011
NM_000215.4(JAK3):c.119G>A (p.Arg40His) rs56384680 0.00011
NM_000215.4(JAK3):c.1752C>T (p.Leu584=) rs200582253 0.00011
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000215.4(JAK3):c.2199+10C>G rs185973755 0.00010
NM_000215.4(JAK3):c.2505C>T (p.Ser835=) rs201199096 0.00010
NM_000215.4(JAK3):c.2097G>A (p.Ala699=) rs571402316 0.00009
NM_000215.4(JAK3):c.2391A>G (p.Ala797=) rs199910484 0.00009
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=) rs369402343 0.00009
NM_000215.4(JAK3):c.1254+9A>G rs1000957625 0.00008
NM_000215.4(JAK3):c.1971G>A (p.Arg657=) rs753209740 0.00008
NM_000215.4(JAK3):c.2673T>C (p.Tyr891=) rs201537885 0.00008
NM_000215.4(JAK3):c.362G>A (p.Arg121His) rs143586866 0.00008
NM_000215.4(JAK3):c.570C>T (p.Tyr190=) rs759887019 0.00008
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000215.4(JAK3):c.*298C>A rs190366074 0.00006
NM_000215.4(JAK3):c.1184G>A (p.Arg395His) rs143038064 0.00006
NM_000215.4(JAK3):c.1914+10C>T rs200964315 0.00006
NM_000215.4(JAK3):c.2756C>T (p.Ala919Val) rs767424476 0.00006
NM_000215.4(JAK3):c.3366C>T (p.Ser1122=) rs141069196 0.00006
NM_000215.4(JAK3):c.1005G>A (p.Leu335=) rs202231447 0.00005
NM_000215.4(JAK3):c.1140C>T (p.Ile380=) rs910451747 0.00005
NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln) rs145751599 0.00005
NM_000215.4(JAK3):c.1992G>A (p.Pro664=) rs200499852 0.00005
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000215.4(JAK3):c.2292G>A (p.Pro764=) rs200685231 0.00005
NM_000215.4(JAK3):c.567-8C>A rs753082440 0.00005
NM_000215.4(JAK3):c.630G>A (p.Arg210=) rs201101011 0.00005
NM_000215.4(JAK3):c.1899C>T (p.Tyr633=) rs538081227 0.00004
NM_000215.4(JAK3):c.192G>A (p.Leu64=) rs771814824 0.00004
NM_000215.4(JAK3):c.2028C>T (p.Pro676=) rs137936180 0.00004
NM_000215.4(JAK3):c.2047+15G>A rs200237945 0.00004
NM_000215.4(JAK3):c.2133C>T (p.Phe711=) rs200726812 0.00004
NM_000215.4(JAK3):c.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000215.4(JAK3):c.2805+5G>A rs200731018 0.00004
NM_000215.4(JAK3):c.309-15C>T rs755593886 0.00004
NM_000215.4(JAK3):c.3204T>A (p.Ala1068=) rs778126810 0.00004
NM_000215.4(JAK3):c.3208-10C>T rs200159093 0.00004
NM_000215.4(JAK3):c.665G>A (p.Arg222His) rs199868795 0.00004
NM_000215.4(JAK3):c.1441+19T>C rs1204641842 0.00003
NM_000215.4(JAK3):c.1786+7G>A rs1011716310 0.00003
NM_000215.4(JAK3):c.2142G>A (p.Thr714=) rs1473714442 0.00003
NM_000215.4(JAK3):c.2919G>A (p.Leu973=) rs769510241 0.00003
NM_000215.4(JAK3):c.3213C>T (p.His1071=) rs757910571 0.00003
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=) rs138593705 0.00003
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_000215.4(JAK3):c.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_000215.4(JAK3):c.2055C>T (p.Thr685=) rs745486642 0.00002
NM_000215.4(JAK3):c.2136C>T (p.Gly712=) rs769105045 0.00002
NM_000215.4(JAK3):c.2351-11C>T rs200386518 0.00002
NM_000215.4(JAK3):c.2529G>A (p.Pro843=) rs775003661 0.00002
NM_000215.4(JAK3):c.2692C>T (p.Leu898=) rs202043320 0.00002
NM_000215.4(JAK3):c.3345G>A (p.Glu1115=) rs536693961 0.00002
NM_000215.4(JAK3):c.489C>T (p.Leu163=) rs138218812 0.00002
NM_000215.4(JAK3):c.564C>G (p.Val188=) rs199853515 0.00002
NM_000215.4(JAK3):c.909C>T (p.Ile303=) rs768850889 0.00002
NM_000215.4(JAK3):c.984+11G>T rs756102540 0.00002
NM_000215.4(JAK3):c.1023C>T (p.Phe341=) rs140073972 0.00001
NM_000215.4(JAK3):c.1047C>T (p.Phe349=) rs748541941 0.00001
NM_000215.4(JAK3):c.105C>T (p.Pro35=) rs199988158 0.00001
NM_000215.4(JAK3):c.1371C>T (p.Cys457=) rs200197702 0.00001
NM_000215.4(JAK3):c.1458C>T (p.Ile486=) rs1297346398 0.00001
NM_000215.4(JAK3):c.150T>C (p.Ala50=) rs2094246845 0.00001
NM_000215.4(JAK3):c.1644C>T (p.Ala548=) rs764363104 0.00001
NM_000215.4(JAK3):c.1740G>A (p.Ser580=) rs143605793 0.00001
NM_000215.4(JAK3):c.1764C>T (p.His588=) rs201482851 0.00001
NM_000215.4(JAK3):c.1965G>A (p.Leu655=) rs199607834 0.00001
NM_000215.4(JAK3):c.2163C>T (p.Gly721=) rs200715301 0.00001
NM_000215.4(JAK3):c.2199+11C>T rs1380361871 0.00001
NM_000215.4(JAK3):c.2262G>A (p.Leu754=) rs375857709 0.00001
NM_000215.4(JAK3):c.2451C>T (p.Phe817=) rs201576913 0.00001
NM_000215.4(JAK3):c.2463C>T (p.His821=) rs200691724 0.00001
NM_000215.4(JAK3):c.2491-14C>T rs202094680 0.00001
NM_000215.4(JAK3):c.2571G>T (p.Leu857=) rs2050410603 0.00001
NM_000215.4(JAK3):c.2655G>A (p.Lys885=) rs1479562469 0.00001
NM_000215.4(JAK3):c.267C>A (p.Ser89=) rs754716735 0.00001
NM_000215.4(JAK3):c.2718C>A (p.Pro906=) rs370066330 0.00001
NM_000215.4(JAK3):c.2740C>T (p.Leu914=) rs747463452 0.00001
NM_000215.4(JAK3):c.2978+15C>T rs587780955 0.00001
NM_000215.4(JAK3):c.2978+9C>A rs750682558 0.00001
NM_000215.4(JAK3):c.2985C>G (p.Ala995=) rs1382312413 0.00001
NM_000215.4(JAK3):c.3021G>A (p.Gln1007=) rs553571090 0.00001
NM_000215.4(JAK3):c.309-20G>A rs753489606 0.00001
NM_000215.4(JAK3):c.3096+8G>A rs374300158 0.00001
NM_000215.4(JAK3):c.3144C>T (p.Cys1048=) rs201735857 0.00001
NM_000215.4(JAK3):c.3189T>A (p.Pro1063=) rs1007591322 0.00001
NM_000215.4(JAK3):c.3208-9G>A rs201379612 0.00001
NM_000215.4(JAK3):c.3214G>A (p.Glu1072Lys) rs752088869 0.00001
NM_000215.4(JAK3):c.3276C>T (p.Gly1092=) rs199611932 0.00001
NM_000215.4(JAK3):c.354C>T (p.Phe118=) rs751336782 0.00001
NM_000215.4(JAK3):c.358C>T (p.Leu120=) rs762655525 0.00001
NM_000215.4(JAK3):c.42T>A (p.Arg14=) rs769914477 0.00001
NM_000215.4(JAK3):c.624G>T (p.Val208=) rs868243883 0.00001
NM_000215.4(JAK3):c.657A>G (p.Arg219=) rs1236808333 0.00001
NM_000215.4(JAK3):c.862-17C>T rs966548994 0.00001
NM_000215.4(JAK3):c.93C>T (p.Pro31=) rs201917022 0.00001
NM_000215.4(JAK3):c.1005G>T (p.Leu335=)
NM_000215.4(JAK3):c.1008C>T (p.Pro336=)
NM_000215.4(JAK3):c.1011G>A (p.Glu337=)
NM_000215.4(JAK3):c.1014T>G (p.Ala338=)
NM_000215.4(JAK3):c.1053G>A (p.Leu351=)
NM_000215.4(JAK3):c.1056C>A (p.Thr352=)
NM_000215.4(JAK3):c.1059G>T (p.Thr353=)
NM_000215.4(JAK3):c.1068G>A (p.Gln356=)
NM_000215.4(JAK3):c.1086G>A (p.Glu362=)
NM_000215.4(JAK3):c.1098G>T (p.Pro366=)
NM_000215.4(JAK3):c.1134C>T (p.Gly378=)
NM_000215.4(JAK3):c.1142+10T>C
NM_000215.4(JAK3):c.1142+13C>T
NM_000215.4(JAK3):c.1142+14C>T
NM_000215.4(JAK3):c.1142+16C>T
NM_000215.4(JAK3):c.1143-10T>C
NM_000215.4(JAK3):c.1143-13C>T
NM_000215.4(JAK3):c.1143-14A>G
NM_000215.4(JAK3):c.1143-19C>T
NM_000215.4(JAK3):c.1143-5C>T
NM_000215.4(JAK3):c.1143-6C>T
NM_000215.4(JAK3):c.1158C>T (p.Ile386=)
NM_000215.4(JAK3):c.1176G>T (p.Gly392=)
NM_000215.4(JAK3):c.1185T>C (p.Arg395=)
NM_000215.4(JAK3):c.1191C>G (p.Gly397=)
NM_000215.4(JAK3):c.1236C>T (p.Leu412=)
NM_000215.4(JAK3):c.1239C>T (p.Leu413=)
NM_000215.4(JAK3):c.123A>G (p.Leu41=)
NM_000215.4(JAK3):c.1254+12G>A
NM_000215.4(JAK3):c.1254+18G>T
NM_000215.4(JAK3):c.1255-12T>C
NM_000215.4(JAK3):c.1255-15C>T
NM_000215.4(JAK3):c.1255-19G>C
NM_000215.4(JAK3):c.1266T>A (p.Gly422=) rs754562580
NM_000215.4(JAK3):c.1275T>C (p.Tyr425=)
NM_000215.4(JAK3):c.1287C>T (p.Leu429=)
NM_000215.4(JAK3):c.1299C>T (p.Ser433=)
NM_000215.4(JAK3):c.129C>T (p.Phe43=)
NM_000215.4(JAK3):c.1305A>G (p.Thr435=)
NM_000215.4(JAK3):c.1311C>A (p.Thr437=)
NM_000215.4(JAK3):c.1320G>A (p.Leu440=)
NM_000215.4(JAK3):c.1341C>T (p.His447=) rs2147691249
NM_000215.4(JAK3):c.1356G>A (p.Glu452=)
NM_000215.4(JAK3):c.1383G>T (p.Gly461=)
NM_000215.4(JAK3):c.1389C>T (p.His463=) rs201132330
NM_000215.4(JAK3):c.1401G>A (p.Val467=)
NM_000215.4(JAK3):c.1407G>A (p.Val469=)
NM_000215.4(JAK3):c.1413C>T (p.Leu471=)
NM_000215.4(JAK3):c.1425T>C (p.Cys475=)
NM_000215.4(JAK3):c.1428C>T (p.Ile476=)
NM_000215.4(JAK3):c.1441+15C>T
NM_000215.4(JAK3):c.1441+16C>T
NM_000215.4(JAK3):c.1442-10C>G
NM_000215.4(JAK3):c.1442-14T>A
NM_000215.4(JAK3):c.1442-16C>G
NM_000215.4(JAK3):c.1442-18C>G
NM_000215.4(JAK3):c.1442-6C>G
NM_000215.4(JAK3):c.1442-6C>T
NM_000215.4(JAK3):c.1442-7C>G
NM_000215.4(JAK3):c.1442-9T>C
NM_000215.4(JAK3):c.1473T>C (p.Gly491=)
NM_000215.4(JAK3):c.1485C>T (p.Pro495=)
NM_000215.4(JAK3):c.1495T>C (p.Leu499=)
NM_000215.4(JAK3):c.1509A>G (p.Gln503=)
NM_000215.4(JAK3):c.1518C>T (p.Tyr506=)
NM_000215.4(JAK3):c.1545G>A (p.Lys515=)
NM_000215.4(JAK3):c.1569+15G>T
NM_000215.4(JAK3):c.1569+19T>C
NM_000215.4(JAK3):c.1569+8G>A
NM_000215.4(JAK3):c.156C>T (p.Asp52=)
NM_000215.4(JAK3):c.1570-10C>G
NM_000215.4(JAK3):c.1570-13C>G
NM_000215.4(JAK3):c.1570-15C>T
NM_000215.4(JAK3):c.1570-17del
NM_000215.4(JAK3):c.1570-20G>A
NM_000215.4(JAK3):c.1570-5T>C
NM_000215.4(JAK3):c.1572T>C (p.His524=)
NM_000215.4(JAK3):c.1593C>T (p.Ser531=)
NM_000215.4(JAK3):c.1611G>A (p.Arg537=)
NM_000215.4(JAK3):c.162C>T (p.Cys54=)
NM_000215.4(JAK3):c.1635T>C (p.Asp545=)
NM_000215.4(JAK3):c.1641G>A (p.Glu547=)
NM_000215.4(JAK3):c.1659G>A (p.Val553=)
NM_000215.4(JAK3):c.1659G>C (p.Val553=)
NM_000215.4(JAK3):c.165G>A (p.Val55=)
NM_000215.4(JAK3):c.165G>C (p.Val55=)
NM_000215.4(JAK3):c.1662G>A (p.Leu554=)
NM_000215.4(JAK3):c.1677T>C (p.Asp559=)
NM_000215.4(JAK3):c.1683G>A (p.Lys561=) rs2094228255
NM_000215.4(JAK3):c.1686C>T (p.His562=)
NM_000215.4(JAK3):c.1701+11T>G
NM_000215.4(JAK3):c.1701+17C>T
NM_000215.4(JAK3):c.1701+19A>G
NM_000215.4(JAK3):c.1701+7G>A
NM_000215.4(JAK3):c.1702-15T>C
NM_000215.4(JAK3):c.1702-16T>C
NM_000215.4(JAK3):c.1702-4C>A
NM_000215.4(JAK3):c.1702-6C>T
NM_000215.4(JAK3):c.1702-9C>T
NM_000215.4(JAK3):c.1704A>G (p.Ser568=)
NM_000215.4(JAK3):c.1710G>C (p.Leu570=)
NM_000215.4(JAK3):c.1719G>A (p.Ala573=)
NM_000215.4(JAK3):c.1719G>C (p.Ala573=)
NM_000215.4(JAK3):c.1719G>T (p.Ala573=) rs201371931
NM_000215.4(JAK3):c.1740G>T (p.Ser580=)
NM_000215.4(JAK3):c.1746G>A (p.Arg582=)
NM_000215.4(JAK3):c.1755G>T (p.Val585=)
NM_000215.4(JAK3):c.1786+13C>T rs781208496
NM_000215.4(JAK3):c.1786+15C>T
NM_000215.4(JAK3):c.1786+20C>T
NM_000215.4(JAK3):c.1786+7G>C
NM_000215.4(JAK3):c.1786+7G>T
NM_000215.4(JAK3):c.1786+8C>G
NM_000215.4(JAK3):c.1786+8C>T
NM_000215.4(JAK3):c.1786+9C>A
NM_000215.4(JAK3):c.1787-11C>T
NM_000215.4(JAK3):c.1787-15C>A
NM_000215.4(JAK3):c.1787-16C>T
NM_000215.4(JAK3):c.1787-18C>T
NM_000215.4(JAK3):c.1787-19T>C
NM_000215.4(JAK3):c.1787-20C>T
NM_000215.4(JAK3):c.1787-4C>T rs2147684406
NM_000215.4(JAK3):c.1791C>T (p.Thr597=)
NM_000215.4(JAK3):c.1797G>C (p.Val599=)
NM_000215.4(JAK3):c.1815G>A (p.Leu605=)
NM_000215.4(JAK3):c.1818G>A (p.Gly606=)
NM_000215.4(JAK3):c.1837C>A (p.Arg613=)
NM_000215.4(JAK3):c.184+11C>A rs1331165925
NM_000215.4(JAK3):c.184+11C>T
NM_000215.4(JAK3):c.184+19G>C
NM_000215.4(JAK3):c.184+9A>G
NM_000215.4(JAK3):c.185-15G>A
NM_000215.4(JAK3):c.185-15G>T
NM_000215.4(JAK3):c.1860A>C (p.Pro620=) rs2147684222
NM_000215.4(JAK3):c.1881G>A (p.Val627=)
NM_000215.4(JAK3):c.1896C>G (p.Ala632=)
NM_000215.4(JAK3):c.18A>G (p.Glu6=)
NM_000215.4(JAK3):c.1914+13C>G
NM_000215.4(JAK3):c.1914+17C>T rs2147684071
NM_000215.4(JAK3):c.1915-10G>A
NM_000215.4(JAK3):c.1915-17G>C
NM_000215.4(JAK3):c.1915-6C>T
NM_000215.4(JAK3):c.1915-7C>A
NM_000215.4(JAK3):c.1917G>A (p.Glu639=)
NM_000215.4(JAK3):c.1926C>A (p.Gly642=)
NM_000215.4(JAK3):c.1953G>C (p.Arg651=)
NM_000215.4(JAK3):c.1977G>T (p.Gly659=)
NM_000215.4(JAK3):c.1980T>C (p.Ala660=)
NM_000215.4(JAK3):c.1990C>A (p.Pro664Thr) rs575352564
NM_000215.4(JAK3):c.2004G>A (p.Lys668=)
NM_000215.4(JAK3):c.2005C>T (p.Leu669=)
NM_000215.4(JAK3):c.2016T>C (p.Pro672=) rs200250579
NM_000215.4(JAK3):c.2028C>G (p.Pro676=)
NM_000215.4(JAK3):c.2031T>C (p.Ala677=)
NM_000215.4(JAK3):c.2047+19A>T rs2147682659
NM_000215.4(JAK3):c.2047+20G>C
NM_000215.4(JAK3):c.2048-18C>T
NM_000215.4(JAK3):c.2048-19C>A rs2147682566
NM_000215.4(JAK3):c.2048-19C>G
NM_000215.4(JAK3):c.2048-4T>G rs1599870679
NM_000215.4(JAK3):c.2048-9T>C
NM_000215.4(JAK3):c.2055C>G (p.Thr685=)
NM_000215.4(JAK3):c.2067C>T (p.Pro689=)
NM_000215.4(JAK3):c.2073G>A (p.Val691=)
NM_000215.4(JAK3):c.2076C>T (p.Ala692=)
NM_000215.4(JAK3):c.213T>C (p.Phe71=)
NM_000215.4(JAK3):c.2157T>C (p.Phe719=)
NM_000215.4(JAK3):c.2181T>C (p.Ser727=)
NM_000215.4(JAK3):c.2185C>T (p.Leu729=)
NM_000215.4(JAK3):c.2196T>C (p.Ala732=)
NM_000215.4(JAK3):c.2199+14A>C
NM_000215.4(JAK3):c.2199+15C>T
NM_000215.4(JAK3):c.2199+17C>T
NM_000215.4(JAK3):c.2199+18G>A
NM_000215.4(JAK3):c.2199+20C>T
NM_000215.4(JAK3):c.2199+8C>G
NM_000215.4(JAK3):c.2199+8C>T
NM_000215.4(JAK3):c.2200-12T>C
NM_000215.4(JAK3):c.2200-13C>T
NM_000215.4(JAK3):c.2200-14C>T
NM_000215.4(JAK3):c.2200-17G>T
NM_000215.4(JAK3):c.2200-5dup
NM_000215.4(JAK3):c.2200-8A>G
NM_000215.4(JAK3):c.2208A>G (p.Gln736=)
NM_000215.4(JAK3):c.2259C>G (p.Ala753=)
NM_000215.4(JAK3):c.225G>T (p.Thr75=)
NM_000215.4(JAK3):c.2304C>T (p.Pro768=)
NM_000215.4(JAK3):c.2311C>A (p.Arg771=)
NM_000215.4(JAK3):c.2316C>T (p.Ala772=)
NM_000215.4(JAK3):c.231C>T (p.Asp77=) rs771323120
NM_000215.4(JAK3):c.2350+12G>A rs199675950
NM_000215.4(JAK3):c.2350+12G>C
NM_000215.4(JAK3):c.2350+14C>G
NM_000215.4(JAK3):c.2350+14C>T rs771815977
NM_000215.4(JAK3):c.2350+15G>A
NM_000215.4(JAK3):c.2350+16G>A
NM_000215.4(JAK3):c.2350+18T>C
NM_000215.4(JAK3):c.2351-15A>G
NM_000215.4(JAK3):c.2351-18C>T
NM_000215.4(JAK3):c.2351-6C>T
NM_000215.4(JAK3):c.2351-7A>T
NM_000215.4(JAK3):c.2358G>A (p.Glu786=) rs1057518544
NM_000215.4(JAK3):c.2364C>T (p.Leu788=)
NM_000215.4(JAK3):c.237C>A (p.Ser79=)
NM_000215.4(JAK3):c.2382T>G (p.Gly794=)
NM_000215.4(JAK3):c.2394T>G (p.Pro798=)
NM_000215.4(JAK3):c.2397T>C (p.Arg799=)
NM_000215.4(JAK3):c.2406G>A (p.Leu802=)
NM_000215.4(JAK3):c.2430C>G (p.Ala810=)
NM_000215.4(JAK3):c.2430C>T (p.Ala810=)
NM_000215.4(JAK3):c.2442C>A (p.Pro814=) rs201364561
NM_000215.4(JAK3):c.2445G>A (p.Thr815=)
NM_000215.4(JAK3):c.2466C>G (p.Leu822=)
NM_000215.4(JAK3):c.246C>T (p.Phe82=)
NM_000215.4(JAK3):c.2481G>A (p.Gln827=)
NM_000215.4(JAK3):c.2490+14G>A
NM_000215.4(JAK3):c.2490+15G>C
NM_000215.4(JAK3):c.2490+17C>A rs1012424691
NM_000215.4(JAK3):c.2490+17C>T
NM_000215.4(JAK3):c.2491-12G>A
NM_000215.4(JAK3):c.2491-13C>T
NM_000215.4(JAK3):c.2491-15C>T
NM_000215.4(JAK3):c.2491-16T>G rs2147678611
NM_000215.4(JAK3):c.2491-8T>C
NM_000215.4(JAK3):c.24G>A (p.Thr8=)
NM_000215.4(JAK3):c.2512C>T (p.Leu838=)
NM_000215.4(JAK3):c.2514G>C (p.Leu838=)
NM_000215.4(JAK3):c.2547T>G (p.Gly849=)
NM_000215.4(JAK3):c.2550C>A (p.Ala850=)
NM_000215.4(JAK3):c.2553G>C (p.Leu851=)
NM_000215.4(JAK3):c.2559C>A (p.Ala853=)
NM_000215.4(JAK3):c.2559C>T (p.Ala853=)
NM_000215.4(JAK3):c.2562G>C (p.Val854=) rs2147678363
NM_000215.4(JAK3):c.2565A>G (p.Lys855=)
NM_000215.4(JAK3):c.2571G>A (p.Leu857=)
NM_000215.4(JAK3):c.2580C>T (p.Ser860=)
NM_000215.4(JAK3):c.2596A>C (p.Arg866=)
NM_000215.4(JAK3):c.2613G>A (p.Glu871=)
NM_000215.4(JAK3):c.2634G>A (p.Leu878=)
NM_000215.4(JAK3):c.2637C>T (p.His879=)
NM_000215.4(JAK3):c.2664T>G (p.Gly888=) rs2147678142
NM_000215.4(JAK3):c.2667C>G (p.Val889=)
NM_000215.4(JAK3):c.267C>T (p.Ser89=)
NM_000215.4(JAK3):c.2680+14C>T
NM_000215.4(JAK3):c.2680+19G>A
NM_000215.4(JAK3):c.2680+8A>C
NM_000215.4(JAK3):c.2680+9G>A rs935414486
NM_000215.4(JAK3):c.2680+9G>C
NM_000215.4(JAK3):c.2681-12T>C
NM_000215.4(JAK3):c.2681-4C>T
NM_000215.4(JAK3):c.2681-6C>T
NM_000215.4(JAK3):c.2681-9C>A
NM_000215.4(JAK3):c.2682C>T (p.Gly894=)
NM_000215.4(JAK3):c.2694G>A (p.Leu898=)
NM_000215.4(JAK3):c.2697G>T (p.Arg899=)
NM_000215.4(JAK3):c.2709G>A (p.Glu903=)
NM_000215.4(JAK3):c.2721C>T (p.Ser907=)
NM_000215.4(JAK3):c.2733C>A (p.Arg911=)
NM_000215.4(JAK3):c.2748G>A (p.Arg916=)
NM_000215.4(JAK3):c.2751C>T (p.His917=)
NM_000215.4(JAK3):c.2755G>C (p.Ala919Pro)
NM_000215.4(JAK3):c.2757G>A (p.Ala919=)
NM_000215.4(JAK3):c.2763C>T (p.Leu921=)
NM_000215.4(JAK3):c.2769C>T (p.Ala923=)
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2784C>G (p.Leu928=)
NM_000215.4(JAK3):c.2805+7G>A
NM_000215.4(JAK3):c.2805+7G>C
NM_000215.4(JAK3):c.2806-12G>C
NM_000215.4(JAK3):c.2806-12G>T
NM_000215.4(JAK3):c.2806-14CCGC[4] rs1599867265
NM_000215.4(JAK3):c.2806-18C>G
NM_000215.4(JAK3):c.2806-4G>A
NM_000215.4(JAK3):c.2806-5C>T
NM_000215.4(JAK3):c.2806-8G>T
NM_000215.4(JAK3):c.2818C>T (p.Leu940=)
NM_000215.4(JAK3):c.2829C>T (p.Arg943=)
NM_000215.4(JAK3):c.2835C>T (p.Cys945=)
NM_000215.4(JAK3):c.2841C>T (p.His947=)
NM_000215.4(JAK3):c.2850G>T (p.Leu950=) rs2094214171
NM_000215.4(JAK3):c.2865C>T (p.Ile955=)
NM_000215.4(JAK3):c.2868C>T (p.Leu956=)
NM_000215.4(JAK3):c.2908C>T (p.Leu970=)
NM_000215.4(JAK3):c.291C>T (p.Val97=)
NM_000215.4(JAK3):c.2943C>T (p.Tyr981=)
NM_000215.4(JAK3):c.2970C>T (p.Pro990=)
NM_000215.4(JAK3):c.2973T>C (p.Ile991=)
NM_000215.4(JAK3):c.2978+10_2978+11del
NM_000215.4(JAK3):c.2978+11del
NM_000215.4(JAK3):c.2978+12G>A rs1164733759
NM_000215.4(JAK3):c.2979-16C>T
NM_000215.4(JAK3):c.2979-6C>T
NM_000215.4(JAK3):c.2979-8C>T
NM_000215.4(JAK3):c.2979-8_2979-6dup
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.2982T>C (p.Tyr994=)
NM_000215.4(JAK3):c.2988C>G (p.Pro996=)
NM_000215.4(JAK3):c.3012C>T (p.Phe1004=)
NM_000215.4(JAK3):c.3027C>T (p.Asp1009=)
NM_000215.4(JAK3):c.3039C>T (p.Phe1013=)
NM_000215.4(JAK3):c.3045C>T (p.Val1015=)
NM_000215.4(JAK3):c.3048C>T (p.Val1016=)
NM_000215.4(JAK3):c.3066C>G (p.Thr1022=)
NM_000215.4(JAK3):c.3066C>T (p.Thr1022=) rs200112920
NM_000215.4(JAK3):c.308+11C>T
NM_000215.4(JAK3):c.308+18G>A
NM_000215.4(JAK3):c.308+19C>T
NM_000215.4(JAK3):c.308+8G>C
NM_000215.4(JAK3):c.3084C>T (p.Cys1028=) rs200096249
NM_000215.4(JAK3):c.3087C>T (p.Ser1029=)
NM_000215.4(JAK3):c.309-11T>C
NM_000215.4(JAK3):c.309-17C>G
NM_000215.4(JAK3):c.309-19T>C
NM_000215.4(JAK3):c.309-7C>T
NM_000215.4(JAK3):c.309-7dup rs2147699635
NM_000215.4(JAK3):c.309-8C>T
NM_000215.4(JAK3):c.3096+10C>T
NM_000215.4(JAK3):c.3096+15C>G
NM_000215.4(JAK3):c.3096+19G>A
NM_000215.4(JAK3):c.3096+20C>A rs765910786
NM_000215.4(JAK3):c.3096+20C>T
NM_000215.4(JAK3):c.3096+8G>C rs374300158
NM_000215.4(JAK3):c.3096+9G>C
NM_000215.4(JAK3):c.3097-12C>T
NM_000215.4(JAK3):c.3097-15C>G
NM_000215.4(JAK3):c.3097-17C>T
NM_000215.4(JAK3):c.3097-18G>T
NM_000215.4(JAK3):c.30G>A (p.Leu10=)
NM_000215.4(JAK3):c.3108G>A (p.Arg1036=)
NM_000215.4(JAK3):c.3123G>A (p.Glu1041=)
NM_000215.4(JAK3):c.3135C>T (p.Pro1045=)
NM_000215.4(JAK3):c.3141C>G (p.Leu1047=)
NM_000215.4(JAK3):c.3151T>C (p.Leu1051=)
NM_000215.4(JAK3):c.3159G>T (p.Leu1053=)
NM_000215.4(JAK3):c.3165G>A (p.Glu1055=) rs1599865897
NM_000215.4(JAK3):c.3174G>A (p.Gln1058=) rs773788067
NM_000215.4(JAK3):c.3183G>A (p.Pro1061=)
NM_000215.4(JAK3):c.3201T>G (p.Pro1067=)
NM_000215.4(JAK3):c.3207+10G>A rs866815271
NM_000215.4(JAK3):c.3207+17dup
NM_000215.4(JAK3):c.3207+9C>A
NM_000215.4(JAK3):c.3207+9C>T
NM_000215.4(JAK3):c.3208-11C>T
NM_000215.4(JAK3):c.3208-12C>T
NM_000215.4(JAK3):c.3208-16G>T rs200008494
NM_000215.4(JAK3):c.3208-18C>T
NM_000215.4(JAK3):c.3208-9G>T
NM_000215.4(JAK3):c.3225G>A (p.Lys1075=)
NM_000215.4(JAK3):c.324T>C (p.Asn108=)
NM_000215.4(JAK3):c.3252C>T (p.Asp1084=)
NM_000215.4(JAK3):c.3270C>A (p.Ala1090=)
NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)
NM_000215.4(JAK3):c.3276C>A (p.Gly1092=) rs199611932
NM_000215.4(JAK3):c.3279C>T (p.Pro1093=)
NM_000215.4(JAK3):c.3282G>A (p.Gln1094=) rs577496865
NM_000215.4(JAK3):c.3312G>A (p.Gly1104=)
NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)
NM_000215.4(JAK3):c.3360C>G (p.Ser1120=) rs1217168188
NM_000215.4(JAK3):c.342G>A (p.Lys114=)
NM_000215.4(JAK3):c.357G>T (p.Gly119=)
NM_000215.4(JAK3):c.363C>T (p.Arg121=)
NM_000215.4(JAK3):c.381T>C (p.Ala127=) rs587778418
NM_000215.4(JAK3):c.387T>A (p.Leu129=)
NM_000215.4(JAK3):c.393G>T (p.Leu131=)
NM_000215.4(JAK3):c.405G>A (p.Glu135=) rs867072615
NM_000215.4(JAK3):c.421-11C>T
NM_000215.4(JAK3):c.421-16del
NM_000215.4(JAK3):c.421-19C>G
NM_000215.4(JAK3):c.421-4_421-3del
NM_000215.4(JAK3):c.421-6C>T
NM_000215.4(JAK3):c.421-7C>G
NM_000215.4(JAK3):c.421-7C>T rs200101939
NM_000215.4(JAK3):c.421-9G>T
NM_000215.4(JAK3):c.421-9del
NM_000215.4(JAK3):c.423C>T (p.His141=)
NM_000215.4(JAK3):c.432C>T (p.Asp144=)
NM_000215.4(JAK3):c.450C>A (p.Leu150=)
NM_000215.4(JAK3):c.450C>T (p.Leu150=)
NM_000215.4(JAK3):c.453C>T (p.Pro151=)
NM_000215.4(JAK3):c.471G>A (p.Lys157=)
NM_000215.4(JAK3):c.492C>T (p.Ser164=)
NM_000215.4(JAK3):c.495G>A (p.Leu165=)
NM_000215.4(JAK3):c.498C>A (p.Ala166=) rs201527800
NM_000215.4(JAK3):c.501G>T (p.Val167=) rs1599880049
NM_000215.4(JAK3):c.502T>C (p.Leu168=) rs1599880046
NM_000215.4(JAK3):c.516G>A (p.Arg172=) rs1599880017
NM_000215.4(JAK3):c.522G>C (p.Ala174=)
NM_000215.4(JAK3):c.528G>A (p.Glu176=)
NM_000215.4(JAK3):c.534C>T (p.Ala178=)
NM_000215.4(JAK3):c.537G>A (p.Gln179=)
NM_000215.4(JAK3):c.538C>A (p.Arg180=)
NM_000215.4(JAK3):c.540G>T (p.Arg180=)
NM_000215.4(JAK3):c.564C>T (p.Val188=)
NM_000215.4(JAK3):c.566+11C>T
NM_000215.4(JAK3):c.566+13A>C
NM_000215.4(JAK3):c.566+15G>C
NM_000215.4(JAK3):c.566+19T>G
NM_000215.4(JAK3):c.566+20G>A
NM_000215.4(JAK3):c.567-15C>T
NM_000215.4(JAK3):c.567-16C>T
NM_000215.4(JAK3):c.567-17C>G
NM_000215.4(JAK3):c.567-17C>T
NM_000215.4(JAK3):c.567-18C>A
NM_000215.4(JAK3):c.567-18C>T
NM_000215.4(JAK3):c.567-6C>T
NM_000215.4(JAK3):c.567-9C>T
NM_000215.4(JAK3):c.594G>T (p.Leu198=)
NM_000215.4(JAK3):c.606C>A (p.Ile202=)
NM_000215.4(JAK3):c.60C>T (p.Ser20=)
NM_000215.4(JAK3):c.621C>T (p.Phe207=)
NM_000215.4(JAK3):c.639T>C (p.Ile213=)
NM_000215.4(JAK3):c.63G>C (p.Thr21=)
NM_000215.4(JAK3):c.643A>C (p.Arg215=)
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.660C>T (p.Ala220=)
NM_000215.4(JAK3):c.666C>T (p.Arg222=)
NM_000215.4(JAK3):c.669C>T (p.Arg223=)
NM_000215.4(JAK3):c.678C>G (p.Ala226=) rs2147697716
NM_000215.4(JAK3):c.708C>T (p.Ala236=)
NM_000215.4(JAK3):c.717C>A (p.Ile239=)
NM_000215.4(JAK3):c.744C>A (p.Ala248=)
NM_000215.4(JAK3):c.744C>G (p.Ala248=)
NM_000215.4(JAK3):c.744C>T (p.Ala248=)
NM_000215.4(JAK3):c.750C>T (p.Ala250=)
NM_000215.4(JAK3):c.753C>G (p.Ala251=)
NM_000215.4(JAK3):c.756G>A (p.Glu252=)
NM_000215.4(JAK3):c.76C>T (p.Leu26=)
NM_000215.4(JAK3):c.774C>T (p.Leu258=)
NM_000215.4(JAK3):c.783C>T (p.Ala261=)
NM_000215.4(JAK3):c.786T>C (p.Leu262=)
NM_000215.4(JAK3):c.78G>A (p.Leu26=)
NM_000215.4(JAK3):c.792C>T (p.Gly264=)
NM_000215.4(JAK3):c.813C>T (p.Leu271=)
NM_000215.4(JAK3):c.822T>C (p.Ala274=)
NM_000215.4(JAK3):c.822T>G (p.Ala274=)
NM_000215.4(JAK3):c.828C>T (p.Asp276=)
NM_000215.4(JAK3):c.831C>T (p.Gly277=)
NM_000215.4(JAK3):c.846C>A (p.Thr282=)
NM_000215.4(JAK3):c.852A>G (p.Gly284=)
NM_000215.4(JAK3):c.858G>A (p.Gln286=)
NM_000215.4(JAK3):c.861+18C>T
NM_000215.4(JAK3):c.861+19G>C
NM_000215.4(JAK3):c.861+9G>T rs779139433
NM_000215.4(JAK3):c.862-11C>A rs752415312
NM_000215.4(JAK3):c.862-12C>G
NM_000215.4(JAK3):c.862-13C>A
NM_000215.4(JAK3):c.862-13C>G
NM_000215.4(JAK3):c.862-15C>G rs1335495836
NM_000215.4(JAK3):c.862-16T>A
NM_000215.4(JAK3):c.862-18A>C
NM_000215.4(JAK3):c.862-5C>A rs2147695701
NM_000215.4(JAK3):c.862-8C>T
NM_000215.4(JAK3):c.873C>A (p.Pro291=)
NM_000215.4(JAK3):c.873C>T (p.Pro291=)
NM_000215.4(JAK3):c.879C>T (p.Cys293=)
NM_000215.4(JAK3):c.900C>T (p.Asp300=)
NM_000215.4(JAK3):c.906C>T (p.Ser302=)
NM_000215.4(JAK3):c.918C>G (p.Ala306=) rs775577056
NM_000215.4(JAK3):c.918C>T (p.Ala306=)
NM_000215.4(JAK3):c.924C>G (p.Arg308=)
NM_000215.4(JAK3):c.933G>C (p.Pro311=)
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000215.4(JAK3):c.939A>G (p.Gly313=)
NM_000215.4(JAK3):c.949C>T (p.Leu317=)
NM_000215.4(JAK3):c.960T>C (p.Val320=)
NM_000215.4(JAK3):c.963C>A (p.Thr321=)
NM_000215.4(JAK3):c.975C>T (p.Asn325=)
NM_000215.4(JAK3):c.97C>A (p.Arg33=)
NM_000215.4(JAK3):c.984+11G>A
NM_000215.4(JAK3):c.984+15C>G
NM_000215.4(JAK3):c.984+17C>T
NM_000215.4(JAK3):c.985-11G>T
NM_000215.4(JAK3):c.985-14C>G
NM_000215.4(JAK3):c.985-15G>A rs200067874
NM_000215.4(JAK3):c.985-15G>T
NM_000215.4(JAK3):c.985-16C>G
NM_000215.4(JAK3):c.985-17A>G
NM_000215.4(JAK3):c.985-18G>A
NM_000215.4(JAK3):c.985-4G>T
NM_000215.4(JAK3):c.985-6T>C
NM_000215.4(JAK3):c.985-7C>T
NM_000215.4(JAK3):c.985-9C>T
NM_000215.4(JAK3):c.987G>A (p.Glu329=)
NM_000215.4(JAK3):c.990C>T (p.Ala330=)
NM_000215.4(JAK3):c.993G>A (p.Glu331=)

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