ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.*1238A>T rs9292617 0.72701
NM_002185.5(IL7R):c.*1661G>A rs7716064 0.72649
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.*2339T>C rs6451231 0.72445
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002185.5(IL7R):c.*917G>A rs10063294 0.58961
NM_000215.4(JAK3):c.*123T>C rs3008 0.52650
NM_000215.4(JAK3):c.*1926A>G rs11888 0.38087
NM_002185.5(IL7R):c.*3007A>G rs700179 0.31973
NM_002185.5(IL7R):c.*2841T>C rs1053496 0.31938
NM_002185.5(IL7R):c.*1326A>G rs10491434 0.31937
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_000215.4(JAK3):c.*654A>T rs71332114 0.28246
NM_000733.3(CD3E):c.-112G>A rs2231440 0.25571
NM_000733.4(CD3E):c.54C>T (p.Gly18=) rs1126924 0.25335
NM_000215.4(JAK3):c.*448C>A rs3212802 0.25138
NM_002185.5(IL7R):c.*2507C>T rs6881270 0.24668
NM_000215.4(JAK3):c.-36A>G rs7254346 0.22842
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_000215.4(JAK3):c.*1293C>T rs73014967 0.17398
NM_002185.5(IL7R):c.*3015A>G rs1862632 0.13303
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_002185.5(IL7R):c.*1552G>A rs10053847 0.13273
NM_002185.5(IL7R):c.*2547G>A rs13167136 0.13265
NM_002185.5(IL7R):c.*1924G>A rs9292618 0.13252
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_000733.4(CD3E):c.*55C>A rs2231450 0.05808
NM_002185.5(IL7R):c.*2995G>A rs72742450 0.04632
NM_002185.5(IL7R):c.561G>A (p.Lys187=) rs11567764 0.03877
NM_002185.5(IL7R):c.538-14A>C rs11567763 0.03352
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_002185.5(IL7R):c.*1171G>A rs16902514 0.02323
NM_000733.4(CD3E):c.*48C>A rs2231449 0.02215
NM_000215.4(JAK3):c.*36G>A rs3212799 0.01948
NM_002185.5(IL7R):c.*2454T>A rs6862072 0.01568
NM_000215.4(JAK3):c.*1319G>A rs118101939 0.01432
NM_002185.5(IL7R):c.*1619G>T rs113174267 0.01386
NM_002185.5(IL7R):c.*1508G>C rs111740630 0.01383
NM_000215.4(JAK3):c.*1422G>A rs79972191 0.01316
NM_002185.5(IL7R):c.*2750C>G rs6885455 0.01076
NM_002185.5(IL7R):c.*508A>G rs74625608 0.01051
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_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_002185.5(IL7R):c.*1902C>T rs187393408 0.00754
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.*1197G>A rs3213415 0.00736
NM_000732.6(CD3D):c.*59C>T rs113271462 0.00716
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_002185.5(IL7R):c.*42A>G rs145513117 0.00647
NM_000215.4(JAK3):c.*73T>C rs149873298 0.00605
NM_000215.4(JAK3):c.2806-13C>T rs193156379 0.00498
NM_000215.4(JAK3):c.*252A>T rs79044512 0.00470
NM_002185.5(IL7R):c.*2898G>A rs76863142 0.00469
NM_002185.5(IL7R):c.*453G>T rs79286909 0.00464
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232 0.00456
NM_000733.4(CD3E):c.323C>T (p.Ala108Val) rs35299792 0.00427
NM_000215.4(JAK3):c.-26C>T rs199713123 0.00411
NM_002185.5(IL7R):c.*1974A>G rs145691961 0.00411
NM_000215.4(JAK3):c.1548C>T (p.Ile516=) rs144203232 0.00372
NM_002185.5(IL7R):c.132C>T (p.Ser44=) rs11567704 0.00357
NM_000733.4(CD3E):c.*196C>G rs116370847 0.00330
NM_000215.4(JAK3):c.*937G>A rs3212803 0.00304
NM_000733.4(CD3E):c.103C>T (p.Pro35Ser) rs143949187 0.00295
NM_002185.5(IL7R):c.*2413T>G rs192345351 0.00247
NM_000215.4(JAK3):c.*299C>T rs201718854 0.00246
NM_002185.5(IL7R):c.*3089C>T rs187963551 0.00235
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_000206.3(IL2RG):c.858G>A (p.Thr286=) rs148001866 0.00189
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00144
NM_000215.4(JAK3):c.*653T>A rs886054274 0.00143
NM_002185.5(IL7R):c.*2429T>C rs548166315 0.00138
NM_002185.5(IL7R):c.*2294C>G rs563733521 0.00132
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000733.4(CD3E):c.216T>C (p.Asp72=) rs2231444 0.00121
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_002185.5(IL7R):c.*2165C>T rs76614394 0.00119
NM_000215.4(JAK3):c.*404G>A rs200207634 0.00117
NM_000215.4(JAK3):c.*1833G>A rs546293977 0.00113
NM_002185.5(IL7R):c.*2065G>A rs541801251 0.00111
NM_000215.4(JAK3):c.*1038A>G rs373917722 0.00104
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.2079C>T (p.Pro693=) rs145377049 0.00096
NM_002185.5(IL7R):c.*1702A>C rs147528974 0.00096
NM_002185.5(IL7R):c.*695C>A rs11567768 0.00096
NM_002185.5(IL7R):c.1020T>G (p.Leu340=) rs138731184 0.00096
NM_000215.4(JAK3):c.1551T>A (p.Pro517=) rs143936463 0.00075
NM_002185.5(IL7R):c.*830A>C rs11567769 0.00063
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
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_002185.5(IL7R):c.*1545G>C rs1494575 0.00054
NM_002185.5(IL7R):c.*2242C>A rs757519422 0.00050
NM_002185.5(IL7R):c.*2183C>A rs753982280 0.00049
NM_000733.4(CD3E):c.*522C>G rs200563411 0.00047
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) rs138482569 0.00047
NM_000215.4(JAK3):c.*1523C>T rs145985086 0.00046
NM_002185.5(IL7R):c.*1614T>C rs563820481 0.00046
NM_000215.4(JAK3):c.3300C>T (p.Ser1100=) rs201073968 0.00041
NM_000733.4(CD3E):c.49+3G>A rs202200315 0.00041
NM_002185.5(IL7R):c.*807G>A rs886060536 0.00038
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln) rs148001159 0.00038
NM_000215.4(JAK3):c.3217C>T (p.Leu1073Phe) rs200580168 0.00036
NM_000215.4(JAK3):c.1453C>T (p.Leu485=) rs55883965 0.00035
NM_002185.5(IL7R):c.153G>A (p.Ser51=) rs149235072 0.00035
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser) rs148931962 0.00031
NM_000215.4(JAK3):c.696C>T (p.His232=) rs199902822 0.00029
NM_002185.5(IL7R):c.*2873C>T rs377053917 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.2235G>A (p.Pro745=) rs149207170 0.00026
NM_000215.4(JAK3):c.2518C>T (p.Arg840Cys) rs200077579 0.00024
NM_002185.5(IL7R):c.*674A>G rs565860240 0.00024
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) rs201084372 0.00023
NM_000215.4(JAK3):c.*371C>T rs185462850 0.00021
NM_002185.5(IL7R):c.1165G>C (p.Asp389His) rs143596606 0.00021
NM_000215.4(JAK3):c.*1548C>T rs191522931 0.00020
NM_002185.5(IL7R):c.*2817C>A rs113393512 0.00020
NM_000215.4(JAK3):c.*503G>A rs201036874 0.00019
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000732.4(CD3D):c.-128G>T rs200171722 0.00019
NM_002185.5(IL7R):c.419G>A (p.Arg140Gln) rs200373233 0.00019
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys) rs145810271 0.00017
NM_002185.5(IL7R):c.*651C>G rs77118170 0.00016
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_000732.6(CD3D):c.274+4C>T rs201299420 0.00014
NM_000215.4(JAK3):c.*403C>T rs1011458072 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_002185.5(IL7R):c.760G>A (p.Ala254Thr) rs137868226 0.00012
NM_000206.2(IL2RG):c.-66T>C rs960999937 0.00011
NM_000215.4(JAK3):c.*1761T>A rs188773566 0.00011
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.649G>A (p.Val217Met) rs202167678 0.00011
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) rs141553540 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_000733.3(CD3E):c.*639T>C rs1415688813 0.00009
NM_000733.4(CD3E):c.*311C>T rs202056225 0.00009
NM_000215.3(JAK3):c.-54C>T rs201353678 0.00008
NM_000732.6(CD3D):c.510C>T (p.Asn170=) rs146997233 0.00008
NM_000733.3(CD3E):c.-166G>A rs886047735 0.00008
NM_002185.5(IL7R):c.*304G>A rs896970443 0.00008
NM_000206.3(IL2RG):c.92A>G (p.Asn31Ser) rs749977756 0.00007
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000732.6(CD3D):c.418C>A (p.Gln140Lys) rs201126605 0.00007
NM_002185.5(IL7R):c.*1489G>C rs774913403 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.1794G>C (p.Met598Ile) rs138143146 0.00006
NM_000732.6(CD3D):c.-8G>A rs201539938 0.00006
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 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.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2395C>T (p.Arg799Cys) rs201241352 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 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_000732.6(CD3D):c.-77G>A rs1006260323 0.00004
NM_000733.4(CD3E):c.*559G>C rs909859167 0.00004
NM_000733.4(CD3E):c.-73T>C rs867899567 0.00004
NM_002185.5(IL7R):c.*35G>A rs758988107 0.00004
NM_002185.5(IL7R):c.*735C>T rs886060535 0.00004
NM_002185.5(IL7R):c.*845G>A rs1157306788 0.00004
NM_002185.5(IL7R):c.379+8G>A rs111370546 0.00004
NM_002185.5(IL7R):c.800+10T>C rs202114203 0.00004
NM_000215.4(JAK3):c.-19C>T rs181416110 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_000732.6(CD3D):c.-44G>A rs886047739 0.00003
NM_000733.4(CD3E):c.*247C>T rs200610341 0.00003
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr) rs200258299 0.00003
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp) rs201867379 0.00003
NM_002185.5(IL7R):c.*1855T>C rs953683949 0.00003
NM_000206.3(IL2RG):c.167C>T (p.Pro56Leu) rs774569887 0.00002
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.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_000215.4(JAK3):c.2490+4A>C rs745806475 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_000733.4(CD3E):c.82A>C (p.Met28Leu) rs759815699 0.00002
NM_002185.5(IL7R):c.*1091G>A rs781372644 0.00002
NM_002185.5(IL7R):c.*2479A>G rs1270525952 0.00002
NM_002185.5(IL7R):c.*663T>A rs763740085 0.00002
NM_002185.5(IL7R):c.111C>T (p.Asp37=) rs763937095 0.00002
NM_002185.5(IL7R):c.695A>G (p.Asn232Ser) rs199714011 0.00002
NM_002185.5(IL7R):c.990G>A (p.Gln330=) rs201093124 0.00002
NM_000206.3(IL2RG):c.*133G>A rs560555283 0.00001
NM_000206.3(IL2RG):c.1010C>G (p.Pro337Arg) rs753250328 0.00001
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.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.1646G>A (p.Arg549Gln) rs201972084 0.00001
NM_000215.4(JAK3):c.2451C>T (p.Phe817=) rs201576913 0.00001
NM_000215.4(JAK3):c.521C>T (p.Ala174Val) rs767865565 0.00001
NM_000732.6(CD3D):c.-46T>C rs886047740 0.00001
NM_000732.6(CD3D):c.-93C>T rs772705529 0.00001
NM_000733.4(CD3E):c.353-11A>T rs199933802 0.00001
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) rs1291390174 0.00001
NM_002185.5(IL7R):c.*1821C>T rs1302897570 0.00001
NM_002185.5(IL7R):c.*2408G>A rs1318974974 0.00001
NM_002185.5(IL7R):c.*539C>T rs886060532 0.00001
NM_002185.5(IL7R):c.*646C>T rs569906853 0.00001
NM_002185.5(IL7R):c.*862C>T rs886060537 0.00001
NM_002185.5(IL7R):c.149G>T (p.Gly50Val) rs202083738 0.00001
NM_002185.5(IL7R):c.418C>T (p.Arg140Trp) rs773491081 0.00001
NM_002185.5(IL7R):c.554G>T (p.Ser185Ile) rs1188286965 0.00001
NM_002185.5(IL7R):c.682A>C (p.Thr228Pro) rs762736419 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_000206.3(IL2RG):c.*290T>C rs763003140
NM_000206.3(IL2RG):c.595-7C>T rs1057515981
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.*138G>C rs3212800
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.1142+13C>A rs3212733
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.1786+13C>T rs781208496
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
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.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2773C>T (p.Arg925Cys) rs149452625
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.3289A>T (p.Met1097Leu) rs201301192
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000732.6(CD3D):c.121A>G (p.Ile41Val) rs886047737
NM_000732.6(CD3D):c.247G>A (p.Glu83Lys) rs201889742
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000733.4(CD3E):c.*383C>T rs200729830
NM_000733.4(CD3E):c.*410A>G rs201143285
NM_000733.4(CD3E):c.*441C>T rs886047736
NM_000733.4(CD3E):c.*535C>G rs200286219
NM_000733.4(CD3E):c.*557T>C rs1948165620
NM_000733.4(CD3E):c.*604G>T rs1263009661
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_002185.5(IL7R):c.*1079C>A rs886060538
NM_002185.5(IL7R):c.*1198G>A rs1760251460
NM_002185.5(IL7R):c.*1253G>A rs10491435
NM_002185.5(IL7R):c.*1253G>T rs10491435
NM_002185.5(IL7R):c.*1548A>T rs886060539
NM_002185.5(IL7R):c.*2068T>G rs1332372176
NM_002185.5(IL7R):c.*2275C>T rs886060541
NM_002185.5(IL7R):c.*2568G>T rs6881706
NM_002185.5(IL7R):c.*3050G>T rs1760300993
NM_002185.5(IL7R):c.*3112A>G rs1760302344
NM_002185.5(IL7R):c.*554G>A rs886060533
NM_002185.5(IL7R):c.*574G>T rs886060534
NM_002185.5(IL7R):c.*676T>C rs762308822
NM_002185.5(IL7R):c.*86A>C rs202075594
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012
NM_002185.5(IL7R):c.1241C>A (p.Thr414Lys) rs2229232
NM_002185.5(IL7R):c.221+7G>A rs200937717
NM_002185.5(IL7R):c.359A>T (p.Lys120Ile) rs201710684
NM_002185.5(IL7R):c.376A>C (p.Ile126Leu) rs201207454
NM_002185.5(IL7R):c.491T>A (p.Met164Lys) rs771957502
NM_002185.5(IL7R):c.83-2A>G rs886060531

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