ClinVar Miner

List of variants in gene JAK3 reported as uncertain significance 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: 359
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HGVS dbSNP gnomAD frequency
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.108G>C (p.Gly36=) rs149701114 0.00201
NM_000215.4(JAK3):c.*653T>A rs886054274 0.00143
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.*404G>A rs200207634 0.00117
NM_000215.4(JAK3):c.*1833G>A rs546293977 0.00113
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
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.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_000215.4(JAK3):c.*1523C>T rs145985086 0.00046
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe) rs200580168 0.00036
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_000215.4(JAK3):c.*507A>T rs572139474 0.00027
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_000215.4(JAK3):c.1254+4G>A rs200084748 0.00022
NM_000215.4(JAK3):c.*371C>T rs185462850 0.00021
NM_000215.4(JAK3):c.*503G>A rs201036874 0.00019
NM_000215.4(JAK3):c.1471G>C (p.Gly491Arg) rs200112185 0.00019
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000215.4(JAK3):c.35C>T (p.Pro12Leu) rs56061056 0.00015
NM_000215.4(JAK3):c.*501C>T rs192417008 0.00014
NM_000215.4(JAK3):c.183C>T (p.Ser61=) rs200269517 0.00014
NM_000215.4(JAK3):c.*403C>T rs1011458072 0.00013
NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn) rs373046546 0.00013
NM_000215.4(JAK3):c.*943G>C rs370189146 0.00012
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000215.4(JAK3):c.*974G>A rs543679158 0.00011
NM_000215.4(JAK3):c.119G>A (p.Arg40His) rs56384680 0.00011
NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu) rs149982493 0.00011
NM_000215.4(JAK3):c.3067T>C (p.Tyr1023His) rs145260622 0.00011
NM_000215.4(JAK3):c.478G>T (p.Gly160Cys) rs149579831 0.00011
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000215.4(JAK3):c.*1287A>T rs771793558 0.00010
NM_000215.4(JAK3):c.2660G>A (p.Arg887His) rs148688786 0.00010
NM_000215.4(JAK3):c.*985C>T rs886054272 0.00009
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_000215.3(JAK3):c.-54C>T rs201353678 0.00008
NM_000215.4(JAK3):c.362G>A (p.Arg121His) rs143586866 0.00008
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000215.4(JAK3):c.1184G>A (p.Arg395His) rs143038064 0.00006
NM_000215.4(JAK3):c.1673T>C (p.Met558Thr) rs777252992 0.00006
NM_000215.4(JAK3):c.1794G>C (p.Met598Ile) rs138143146 0.00006
NM_000215.4(JAK3):c.2089C>T (p.Arg697Trp) rs201838318 0.00006
NM_000215.4(JAK3):c.2350+6C>T rs200193137 0.00006
NM_000215.4(JAK3):c.2593C>G (p.Gln865Glu) rs749480147 0.00006
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000215.4(JAK3):c.*1014C>T rs560529368 0.00004
NM_000215.4(JAK3):c.*847C>T rs886054273 0.00004
NM_000215.4(JAK3):c.1073T>G (p.Phe358Cys) rs200863318 0.00004
NM_000215.4(JAK3):c.1561C>G (p.Leu521Val) rs55666418 0.00004
NM_000215.4(JAK3):c.1933C>T (p.His645Tyr) rs201479407 0.00004
NM_000215.4(JAK3):c.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2333A>G (p.Asn778Ser) rs199861157 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2390C>T (p.Ala797Val) rs765366102 0.00004
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys) rs201241352 0.00004
NM_000215.4(JAK3):c.2479C>G (p.Gln827Glu) rs144683649 0.00004
NM_000215.4(JAK3):c.2503A>T (p.Ser835Cys) rs201966394 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 0.00004
NM_000215.4(JAK3):c.2619G>T (p.Gln873His) rs200645418 0.00004
NM_000215.4(JAK3):c.2630C>T (p.Ala877Val) rs201869359 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000215.4(JAK3):c.2806-14C>G rs976222264 0.00004
NM_000215.4(JAK3):c.524G>A (p.Arg175Gln) rs776089693 0.00004
NM_000215.4(JAK3):c.-19C>T rs181416110 0.00003
NM_000215.4(JAK3):c.1567T>G (p.Trp523Gly) rs199635089 0.00003
NM_000215.4(JAK3):c.2105T>C (p.Leu702Pro) rs772117537 0.00003
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys) rs374191135 0.00003
NM_000215.4(JAK3):c.2678C>T (p.Pro893Leu) rs772027199 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 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.*1522C>T rs1449106505 0.00002
NM_000215.4(JAK3):c.*1778A>G rs886054266 0.00002
NM_000215.4(JAK3):c.1030C>A (p.Leu344Ile) rs1309733826 0.00002
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_000215.4(JAK3):c.1196A>G (p.Tyr399Cys) rs201199447 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.1618C>T (p.Arg540Cys) rs747854515 0.00002
NM_000215.4(JAK3):c.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.1678G>A (p.Ala560Thr) rs771634723 0.00002
NM_000215.4(JAK3):c.2317G>A (p.Val773Ile) rs201531563 0.00002
NM_000215.4(JAK3):c.2490+4A>C rs745806475 0.00002
NM_000215.4(JAK3):c.268G>A (p.Val90Met) rs1016346013 0.00002
NM_000215.4(JAK3):c.2692C>T (p.Leu898=) rs202043320 0.00002
NM_000215.4(JAK3):c.2761C>T (p.Leu921Phe) rs886054278 0.00002
NM_000215.4(JAK3):c.512C>T (p.Ala171Val) rs764890523 0.00002
NM_000215.4(JAK3):c.63G>A (p.Thr21=) rs754954318 0.00002
NM_000215.3(JAK3):c.-105G>A rs950208815 0.00001
NM_000215.4(JAK3):c.*1264G>C rs552602675 0.00001
NM_000215.4(JAK3):c.*1531T>C rs886054268 0.00001
NM_000215.4(JAK3):c.-3C>T rs754275786 0.00001
NM_000215.4(JAK3):c.1079G>T (p.Cys360Phe) rs945125325 0.00001
NM_000215.4(JAK3):c.1080C>T (p.Cys360=) rs564076549 0.00001
NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys) rs200631515 0.00001
NM_000215.4(JAK3):c.110C>G (p.Pro37Arg) rs200960683 0.00001
NM_000215.4(JAK3):c.1120G>C (p.Glu374Gln) rs769243134 0.00001
NM_000215.4(JAK3):c.1153G>T (p.Ala385Ser) rs968177323 0.00001
NM_000215.4(JAK3):c.1262T>G (p.Leu421Arg) rs535740127 0.00001
NM_000215.4(JAK3):c.136G>A (p.Gly46Arg) rs778988303 0.00001
NM_000215.4(JAK3):c.1379G>A (p.Gly460Glu) rs199659728 0.00001
NM_000215.4(JAK3):c.14G>A (p.Ser5Asn) rs566269022 0.00001
NM_000215.4(JAK3):c.1514A>G (p.Gln505Arg) rs2094229344 0.00001
NM_000215.4(JAK3):c.1529A>G (p.Gln510Arg) rs762398167 0.00001
NM_000215.4(JAK3):c.1550C>T (p.Pro517Leu) rs759375144 0.00001
NM_000215.4(JAK3):c.1586A>G (p.His529Arg) rs142805245 0.00001
NM_000215.4(JAK3):c.1609C>T (p.Arg537Trp) rs746305522 0.00001
NM_000215.4(JAK3):c.1631T>C (p.Val544Ala) rs1367182709 0.00001
NM_000215.4(JAK3):c.1646G>A (p.Arg549Gln) rs201972084 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.1768G>A (p.Val590Met) rs1040476469 0.00001
NM_000215.4(JAK3):c.1805T>C (p.Phe602Ser) rs147408277 0.00001
NM_000215.4(JAK3):c.184G>A (p.Gly62Ser) rs199602590 0.00001
NM_000215.4(JAK3):c.1924G>C (p.Gly642Arg) rs1435749725 0.00001
NM_000215.4(JAK3):c.1991C>T (p.Pro664Leu) rs373027121 0.00001
NM_000215.4(JAK3):c.2090G>A (p.Arg697Gln) rs200849846 0.00001
NM_000215.4(JAK3):c.2095G>T (p.Ala699Ser) rs199938989 0.00001
NM_000215.4(JAK3):c.2134G>A (p.Gly712Ser) rs1178958564 0.00001
NM_000215.4(JAK3):c.217C>G (p.Leu73Val) rs2094245829 0.00001
NM_000215.4(JAK3):c.2237C>T (p.Ala746Val) rs2094220656 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000215.4(JAK3):c.2475C>G (p.Ile825Met) rs1459489474 0.00001
NM_000215.4(JAK3):c.2491-3C>G rs1568401934 0.00001
NM_000215.4(JAK3):c.2519G>A (p.Arg840His) rs140837014 0.00001
NM_000215.4(JAK3):c.2609G>A (p.Arg870Gln) rs376945173 0.00001
NM_000215.4(JAK3):c.2679G>A (p.Pro893=) rs200480252 0.00001
NM_000215.4(JAK3):c.2764G>A (p.Asp922Asn) rs763951351 0.00001
NM_000215.4(JAK3):c.2825C>T (p.Ser942Phe) rs372733285 0.00001
NM_000215.4(JAK3):c.28C>G (p.Leu10Val) rs1052019264 0.00001
NM_000215.4(JAK3):c.3104T>A (p.Leu1035Gln) rs2094211254 0.00001
NM_000215.4(JAK3):c.3200C>T (p.Pro1067Leu) rs1223885282 0.00001
NM_000215.4(JAK3):c.323A>G (p.Asn108Ser) rs199790370 0.00001
NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln) rs2094204878 0.00001
NM_000215.4(JAK3):c.3308G>A (p.Arg1103Gln) rs757920411 0.00001
NM_000215.4(JAK3):c.3337C>T (p.His1113Tyr) rs1269489339 0.00001
NM_000215.4(JAK3):c.349C>T (p.Arg117Cys) rs201233697 0.00001
NM_000215.4(JAK3):c.361C>T (p.Arg121Cys) rs776850935 0.00001
NM_000215.4(JAK3):c.420+3G>A rs748616863 0.00001
NM_000215.4(JAK3):c.482A>C (p.Glu161Ala) rs756695301 0.00001
NM_000215.4(JAK3):c.499G>A (p.Val167Met) rs973863737 0.00001
NM_000215.4(JAK3):c.521C>T (p.Ala174Val) rs767865565 0.00001
NM_000215.4(JAK3):c.532G>A (p.Ala178Thr) rs759903379 0.00001
NM_000215.4(JAK3):c.740C>T (p.Pro247Leu) rs761196525 0.00001
NM_000215.4(JAK3):c.81T>G (p.His27Gln) rs1039181282 0.00001
NM_000215.4(JAK3):c.905G>A (p.Ser302Asn) rs751055857 0.00001
NM_000215.4(JAK3):c.932C>T (p.Pro311Leu) rs781705937 0.00001
NC_000019.9:g.(?_17937552)_(17937739_?)dup
NC_000019.9:g.(?_17952178)_(17955226_?)dup
NM_000215.4(JAK3):c.*1094G>C rs886054271
NM_000215.4(JAK3):c.*1218C>A rs886054270
NM_000215.4(JAK3):c.*137G>T rs199679264
NM_000215.4(JAK3):c.*1398G>C rs2094202113
NM_000215.4(JAK3):c.*1509G>T rs750558618
NM_000215.4(JAK3):c.*1661T>G rs1406329008
NM_000215.4(JAK3):c.*1752A>G rs886054267
NM_000215.4(JAK3):c.*1787C>A rs569854764
NM_000215.4(JAK3):c.*1835G>A rs990232897
NM_000215.4(JAK3):c.*204G>A rs2094204211
NM_000215.4(JAK3):c.*271G>T rs886054277
NM_000215.4(JAK3):c.*306G>A rs200658727
NM_000215.4(JAK3):c.*422C>T rs902489404
NM_000215.4(JAK3):c.*593C>T rs886054275
NM_000215.4(JAK3):c.*607G>A rs1364267735
NM_000215.4(JAK3):c.*771C>T rs923086181
NM_000215.4(JAK3):c.*899A>G rs2094202959
NM_000215.4(JAK3):c.105C>A (p.Pro35=)
NM_000215.4(JAK3):c.106G>A (p.Gly36Arg)
NM_000215.4(JAK3):c.1073T>A (p.Phe358Tyr)
NM_000215.4(JAK3):c.1083G>C (p.Lys361Asn) rs2094238493
NM_000215.4(JAK3):c.109C>A (p.Pro37Thr)
NM_000215.4(JAK3):c.1114G>A (p.Val372Met) rs1360733708
NM_000215.4(JAK3):c.1120G>A (p.Glu374Lys)
NM_000215.4(JAK3):c.115C>G (p.Gln39Glu)
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1214C>T (p.Pro405Leu) rs1267642970
NM_000215.4(JAK3):c.1252C>G (p.Gln418Glu) rs2147692670
NM_000215.4(JAK3):c.1254+5G>C rs2147692649
NM_000215.4(JAK3):c.125C>A (p.Ser42Tyr) rs2094246939
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000215.4(JAK3):c.1292G>C (p.Arg431Pro)
NM_000215.4(JAK3):c.1295G>A (p.Arg432His)
NM_000215.4(JAK3):c.1304C>T (p.Thr435Ile)
NM_000215.4(JAK3):c.1315C>T (p.Leu439Phe)
NM_000215.4(JAK3):c.1334G>A (p.Arg445Gln)
NM_000215.4(JAK3):c.1340A>G (p.His447Arg)
NM_000215.4(JAK3):c.1361T>C (p.Leu454Pro)
NM_000215.4(JAK3):c.1389C>A (p.His463Gln) rs201132330
NM_000215.4(JAK3):c.1389C>G (p.His463Gln)
NM_000215.4(JAK3):c.1403C>T (p.Ala468Val) rs2147691045
NM_000215.4(JAK3):c.141C>G (p.Asp47Glu) rs1599881400
NM_000215.4(JAK3):c.1426A>G (p.Ile476Val)
NM_000215.4(JAK3):c.1459G>A (p.Val487Met) rs2147689016
NM_000215.4(JAK3):c.1463T>G (p.Val488Gly) rs2094229597
NM_000215.4(JAK3):c.1483C>T (p.Pro495Ser) rs2094229513
NM_000215.4(JAK3):c.1498G>A (p.Val500Ile) rs2094229434
NM_000215.4(JAK3):c.1528C>A (p.Gln510Lys)
NM_000215.4(JAK3):c.1533G>A (p.Met511Ile)
NM_000215.4(JAK3):c.1547T>A (p.Ile516Asn) rs2094229284
NM_000215.4(JAK3):c.154G>A (p.Asp52Asn) rs2147700846
NM_000215.4(JAK3):c.1622A>T (p.His541Leu) rs148777897
NM_000215.4(JAK3):c.1633G>C (p.Asp545His) rs2147687557
NM_000215.4(JAK3):c.1639G>A (p.Glu547Lys)
NM_000215.4(JAK3):c.163G>A (p.Val55Met)
NM_000215.4(JAK3):c.1672A>G (p.Met558Val) rs200993230
NM_000215.4(JAK3):c.1678G>T (p.Ala560Ser) rs771634723
NM_000215.4(JAK3):c.1679C>G (p.Ala560Gly) rs886054279
NM_000215.4(JAK3):c.1684C>T (p.His562Tyr)
NM_000215.4(JAK3):c.1701+5G>A
NM_000215.4(JAK3):c.1701+6A>G
NM_000215.4(JAK3):c.172G>A (p.Ala58Thr) rs2046340891
NM_000215.4(JAK3):c.1739C>G (p.Ser580Trp) rs587778414
NM_000215.4(JAK3):c.1745G>A (p.Arg582Gln)
NM_000215.4(JAK3):c.1753G>A (p.Val585Met) rs199600889
NM_000215.4(JAK3):c.1763A>C (p.His588Pro) rs1207883288
NM_000215.4(JAK3):c.1786+13C>T rs781208496
NM_000215.4(JAK3):c.1786A>C (p.Ser596Arg)
NM_000215.4(JAK3):c.1796T>G (p.Val599Gly) rs1568403355
NM_000215.4(JAK3):c.1822A>G (p.Ile608Val)
NM_000215.4(JAK3):c.1829T>C (p.Met610Thr) rs896905338
NM_000215.4(JAK3):c.184+5G>A
NM_000215.4(JAK3):c.1878G>C (p.Gln626His) rs2147684176
NM_000215.4(JAK3):c.1907A>G (p.Asn636Ser)
NM_000215.4(JAK3):c.1912C>G (p.Leu638Val) rs757311496
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.1969C>T (p.Arg657Trp) rs1568403015
NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.4(JAK3):c.1997TCA[1] (p.Ile667del) rs2147682930
NM_000215.4(JAK3):c.2029G>A (p.Ala677Thr)
NM_000215.4(JAK3):c.2030C>G (p.Ala677Gly)
NM_000215.4(JAK3):c.2047+5G>C
NM_000215.4(JAK3):c.2055C>A (p.Thr685=)
NM_000215.4(JAK3):c.2096C>T (p.Ala699Val)
NM_000215.4(JAK3):c.2158A>T (p.Ser720Cys)
NM_000215.4(JAK3):c.2165T>C (p.Val722Ala) rs1322146058
NM_000215.4(JAK3):c.2177T>G (p.Ile726Ser)
NM_000215.4(JAK3):c.2199+4A>G rs2094221083
NM_000215.4(JAK3):c.2219A>G (p.Asp740Gly)
NM_000215.4(JAK3):c.2222G>A (p.Arg741Gln) rs202027945
NM_000215.4(JAK3):c.2258C>A (p.Ala753Asp) rs2094220604
NM_000215.4(JAK3):c.2261T>C (p.Leu754Pro)
NM_000215.4(JAK3):c.2279T>C (p.Met760Thr)
NM_000215.4(JAK3):c.2280G>T (p.Met760Ile)
NM_000215.4(JAK3):c.2345C>T (p.Ser782Phe)
NM_000215.4(JAK3):c.2348C>T (p.Ser783Leu)
NM_000215.4(JAK3):c.2349A>T (p.Ser783=)
NM_000215.4(JAK3):c.2350+5C>T rs2147681249
NM_000215.4(JAK3):c.2351-5C>A rs2094217117
NM_000215.4(JAK3):c.2381G>A (p.Gly794Asp) rs935305331
NM_000215.4(JAK3):c.2495A>G (p.Asn832Ser) rs2147678543
NM_000215.4(JAK3):c.2519G>T (p.Arg840Leu) rs140837014
NM_000215.4(JAK3):c.251C>T (p.Pro84Leu)
NM_000215.4(JAK3):c.2530C>G (p.Leu844Val) rs2147678424
NM_000215.4(JAK3):c.2536G>A (p.Asp846Asn)
NM_000215.4(JAK3):c.2554G>C (p.Val852Leu)
NM_000215.4(JAK3):c.2581G>A (p.Gly861Arg) rs200784656
NM_000215.4(JAK3):c.2609G>C (p.Arg870Pro)
NM_000215.4(JAK3):c.2609G>T (p.Arg870Leu)
NM_000215.4(JAK3):c.260TCT[1] (p.Phe88del) rs1568408091
NM_000215.4(JAK3):c.2615T>C (p.Ile872Thr) rs2094216320
NM_000215.4(JAK3):c.2659C>T (p.Arg887Cys) rs759015510
NM_000215.4(JAK3):c.2693T>G (p.Leu898Arg) rs2094215030
NM_000215.4(JAK3):c.2704A>G (p.Met902Val) rs200855932
NM_000215.4(JAK3):c.2716C>T (p.Pro906Ser)
NM_000215.4(JAK3):c.2719A>G (p.Ser907Gly) rs1259843283
NM_000215.4(JAK3):c.2734G>T (p.Asp912Tyr) rs2147676935
NM_000215.4(JAK3):c.2753G>C (p.Arg918Pro) rs753577833
NM_000215.4(JAK3):c.2754_2755delinsGC (p.Ala919Pro) rs2147676832
NM_000215.4(JAK3):c.2764G>C (p.Asp922His) rs763951351
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys) rs149452625
NM_000215.4(JAK3):c.2805+4C>A
NM_000215.4(JAK3):c.2809A>G (p.Met937Val)
NM_000215.4(JAK3):c.281G>A (p.Ser94Asn)
NM_000215.4(JAK3):c.2842C>G (p.Arg948Gly)
NM_000215.4(JAK3):c.2854G>T (p.Ala952Ser)
NM_000215.4(JAK3):c.2867T>C (p.Leu956Pro)
NM_000215.4(JAK3):c.2937C>G (p.Asp979Glu) rs2147675743
NM_000215.4(JAK3):c.2964G>A (p.Gln988=)
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.2987C>T (p.Pro996Leu)
NM_000215.4(JAK3):c.2996T>C (p.Leu999Pro)
NM_000215.4(JAK3):c.3002ACA[1] (p.Asn1002del)
NM_000215.4(JAK3):c.308+5del
NM_000215.4(JAK3):c.3087C>G (p.Ser1029Arg) rs202044618
NM_000215.4(JAK3):c.3094G>A (p.Ala1032Thr) rs2094211935
NM_000215.4(JAK3):c.3113T>C (p.Met1038Thr)
NM_000215.4(JAK3):c.3146G>T (p.Arg1049Leu) rs750073941
NM_000215.4(JAK3):c.3160C>A (p.Leu1054Met)
NM_000215.4(JAK3):c.3161T>C (p.Leu1054Pro)
NM_000215.4(JAK3):c.3164A>G (p.Glu1055Gly)
NM_000215.4(JAK3):c.3207G>A (p.Glu1069=)
NM_000215.4(JAK3):c.3214G>C (p.Glu1072Gln) rs752088869
NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp) rs1265005806
NM_000215.4(JAK3):c.3274G>A (p.Gly1092Ser)
NM_000215.4(JAK3):c.3275G>A (p.Gly1092Asp)
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu) rs201301192
NM_000215.4(JAK3):c.3317A>G (p.Glu1106Gly)
NM_000215.4(JAK3):c.3340C>T (p.Pro1114Ser)
NM_000215.4(JAK3):c.3356A>G (p.His1119Arg) rs1275983760
NM_000215.4(JAK3):c.3371C>T (p.Ser1124Leu) rs1599862815
NM_000215.4(JAK3):c.350G>A (p.Arg117His) rs2094244927
NM_000215.4(JAK3):c.355G>C (p.Gly119Arg) rs763832096
NM_000215.4(JAK3):c.361C>G (p.Arg121Gly) rs776850935
NM_000215.4(JAK3):c.367G>A (p.Asp123Asn) rs201419310
NM_000215.4(JAK3):c.421-10G>A rs976205515
NM_000215.4(JAK3):c.425G>T (p.Arg142Leu)
NM_000215.4(JAK3):c.445C>A (p.Arg149Ser) rs1342240526
NM_000215.4(JAK3):c.446G>C (p.Arg149Pro) rs774941503
NM_000215.4(JAK3):c.4G>C (p.Ala2Pro)
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu) rs147181709
NM_000215.4(JAK3):c.528G>C (p.Glu176Asp)
NM_000215.4(JAK3):c.538_543del (p.Arg180_Pro181del)
NM_000215.4(JAK3):c.566+6_566+41del rs754402855
NM_000215.4(JAK3):c.598G>A (p.Asp200Asn)
NM_000215.4(JAK3):c.5C>T (p.Ala2Val) rs1568408509
NM_000215.4(JAK3):c.610_611delinsAA (p.Gly204Asn) rs2094242511
NM_000215.4(JAK3):c.619T>G (p.Phe207Val)
NM_000215.4(JAK3):c.628C>T (p.Arg210Trp)
NM_000215.4(JAK3):c.62C>T (p.Thr21Met) rs752820429
NM_000215.4(JAK3):c.631A>G (p.Arg211Gly)
NM_000215.4(JAK3):c.633G>T (p.Arg211Ser)
NM_000215.4(JAK3):c.637A>C (p.Ile213Leu) rs1007002260
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.653G>T (p.Arg218Leu) rs201460834
NM_000215.4(JAK3):c.668G>A (p.Arg223His)
NM_000215.4(JAK3):c.698C>G (p.Ser233Trp) rs941028266
NM_000215.4(JAK3):c.718A>G (p.Met240Val)
NM_000215.4(JAK3):c.749C>T (p.Ala250Val) rs1286914027
NM_000215.4(JAK3):c.757A>G (p.Thr253Ala)
NM_000215.4(JAK3):c.773_775del (p.Leu258del)
NM_000215.4(JAK3):c.784C>T (p.Leu262Phe)
NM_000215.4(JAK3):c.805G>A (p.Gly269Arg) rs766895335
NM_000215.4(JAK3):c.806G>A (p.Gly269Glu)
NM_000215.4(JAK3):c.81T>A (p.His27Gln) rs1039181282
NM_000215.4(JAK3):c.828C>A (p.Asp276Glu) rs569160156
NM_000215.4(JAK3):c.829G>A (p.Gly277Ser)
NM_000215.4(JAK3):c.838G>T (p.Ala280Ser)
NM_000215.4(JAK3):c.843G>C (p.Trp281Cys) rs587778419
NM_000215.4(JAK3):c.850G>C (p.Gly284Arg)
NM_000215.4(JAK3):c.859G>A (p.Glu287Lys) rs776551276
NM_000215.4(JAK3):c.861+6G>A rs748305273
NM_000215.4(JAK3):c.870G>T (p.Gln290His) rs2147695669
NM_000215.4(JAK3):c.898G>A (p.Asp300Asn) rs1216814401
NM_000215.4(JAK3):c.915G>C (p.Gln305His) rs200731212
NM_000215.4(JAK3):c.926T>C (p.Val309Ala) rs2094239394
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000215.4(JAK3):c.941A>G (p.Glu314Gly)
NM_000215.4(JAK3):c.944A>G (p.His315Arg) rs2094239321
NM_000215.4(JAK3):c.947G>A (p.Arg316His) rs778229078
NM_000215.4(JAK3):c.971A>T (p.Asp324Val) rs1291046706
NM_000215.4(JAK3):c.976C>A (p.Gln326Lys)
NM_000215.4(JAK3):c.982T>A (p.Leu328Ile) rs1418117194

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