ClinVar Miner

List of variants studied for T-B+ severe combined immunodeficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP
IL2RG, ARG267TER
JAK3, 1-BP INS, 1172G
JAK3, 151-BP DEL
JAK3, ASP169GLU
NC_000016.9:g.(?_30078199)_(30199917_?)del
NC_000016.9:g.(?_30078199)_(30199917_?)dup
NC_000016.9:g.(?_30078199)_(30200305_?)del
NC_000016.9:g.(?_30078199)_(30200305_?)dup
NC_000023.10:g.(?_70328127)_(70328196_?)del
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.2(IL2RG):c.1094T>C (p.Leu365Pro)
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) rs111033619
NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.2(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.2(IL2RG):c.231C>T (p.Ser77=) rs1556330951
NM_000206.2(IL2RG):c.270-15A>G rs886039387
NM_000206.2(IL2RG):c.270-1G>T rs193922346
NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter) rs1569480047
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) rs17875899
NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) rs111033620
NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) rs111033622
NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr) rs1556330755
NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) rs137852507
NM_000206.2(IL2RG):c.406C>T (p.Arg136Trp) rs758080286
NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter)
NM_000206.2(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)
NM_000206.2(IL2RG):c.433A>G (p.Met145Val)
NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.2(IL2RG):c.454+1G>A rs1569480018
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.2(IL2RG):c.455T>G (p.Val152Gly) rs193922348
NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) rs111033621
NM_000206.2(IL2RG):c.461C>A (p.Pro154His)
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) rs879253742
NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
NM_000206.2(IL2RG):c.548del (p.Leu183fs) rs1556330562
NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.2(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.2(IL2RG):c.594+2_594+3delTG
NM_000206.2(IL2RG):c.597A>C (p.Glu199Asp)
NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter) rs1556330286
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.2(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.2(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup) rs587776729
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) rs1556330234
NM_000206.2(IL2RG):c.758-1G>A rs886042051
NM_000206.2(IL2RG):c.821T>C (p.Ile274Thr) rs370677485
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.2(IL2RG):c.855-1G>A rs1556329822
NM_000206.2(IL2RG):c.855-8C>T rs372985214
NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.2(IL2RG):c.87del (p.Asn31fs)
NM_000206.2(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) rs137852509
NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs)
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000215.3(JAK3):c.1030C>A (p.Leu344Ile)
NM_000215.3(JAK3):c.105C>T (p.Pro35=) rs199988158
NM_000215.3(JAK3):c.1073T>G (p.Phe358Cys)
NM_000215.3(JAK3):c.1080C>T (p.Cys360=)
NM_000215.3(JAK3):c.108G>C (p.Gly36=) rs149701114
NM_000215.3(JAK3):c.1131C>T (p.His377=) rs55802448
NM_000215.3(JAK3):c.1142C>A (p.Thr381Asn) rs373046546
NM_000215.3(JAK3):c.114C>A (p.Pro38=) rs1448668382
NM_000215.3(JAK3):c.115del (p.Gln39fs)
NM_000215.3(JAK3):c.119G>A (p.Arg40His) rs56384680
NM_000215.3(JAK3):c.1269T>C (p.Pro423=) rs1555744931
NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.3(JAK3):c.141C>G (p.Asp47Glu)
NM_000215.3(JAK3):c.1442-5C>T rs3212750
NM_000215.3(JAK3):c.1471G>C (p.Gly491Arg) rs200112185
NM_000215.3(JAK3):c.1548C>T (p.Ile516=) rs144203232
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.1581G>A (p.Leu527=) rs3213408
NM_000215.3(JAK3):c.1622A>T (p.His541Leu)
NM_000215.3(JAK3):c.1631T>C (p.Val544Ala)
NM_000215.3(JAK3):c.1644C>T (p.Ala548=) rs764363104
NM_000215.3(JAK3):c.1678G>A (p.Ala560Thr)
NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)
NM_000215.3(JAK3):c.1695C>A (p.Cys565Ter) rs137852625
NM_000215.3(JAK3):c.1710G>A (p.Leu570=) rs3212755
NM_000215.3(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.3(JAK3):c.1837C>T (p.Arg613Ter)
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.1933C>T (p.His645Tyr) rs201479407
NM_000215.3(JAK3):c.1969C>T (p.Arg657Trp) rs1568403015
NM_000215.3(JAK3):c.1991C>T (p.Pro664Leu)
NM_000215.3(JAK3):c.1995C>T (p.Pro665=) rs3212768
NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) rs35785705
NM_000215.3(JAK3):c.2089C>T (p.Arg697Trp)
NM_000215.3(JAK3):c.2095G>T (p.Ala699Ser)
NM_000215.3(JAK3):c.2105T>C (p.Leu702Pro)
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2259C>T (p.Ala753=) rs35458530
NM_000215.3(JAK3):c.2262G>A (p.Leu754=) rs375857709
NM_000215.3(JAK3):c.2316C>A (p.Ala772=)
NM_000215.3(JAK3):c.23C>T (p.Thr8Met) rs145500023
NM_000215.3(JAK3):c.2451C>T (p.Phe817=) rs201576913
NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys) rs374191135
NM_000215.3(JAK3):c.2491-3C>G rs1568401934
NM_000215.3(JAK3):c.2518C>T (p.Arg840Cys)
NM_000215.3(JAK3):c.2581G>A (p.Gly861Arg)
NM_000215.3(JAK3):c.2593C>G (p.Gln865Glu) rs749480147
NM_000215.3(JAK3):c.2609G>A (p.Arg870Gln)
NM_000215.3(JAK3):c.260_262TCT[1] (p.Phe88del) rs1568408091
NM_000215.3(JAK3):c.2619G>T (p.Gln873His)
NM_000215.3(JAK3):c.2625C>T (p.Leu875=) rs2230589
NM_000215.3(JAK3):c.2636A>G (p.His879Arg) rs3179893
NM_000215.3(JAK3):c.2660G>A (p.Arg887His)
NM_000215.3(JAK3):c.2680+3G>C rs749481781
NM_000215.3(JAK3):c.2756C>T (p.Ala919Val)
NM_000215.3(JAK3):c.2764G>A (p.Asp922Asn)
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.28C>G (p.Leu10Val) rs1052019264
NM_000215.3(JAK3):c.297G>C (p.Leu99=) rs3212716
NM_000215.3(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000215.3(JAK3):c.3213C>T (p.His1071=) rs757910571
NM_000215.3(JAK3):c.3300C>T (p.Ser1100=) rs201073968
NM_000215.3(JAK3):c.3356A>G (p.His1119Arg)
NM_000215.3(JAK3):c.3371C>T (p.Ser1124Leu)
NM_000215.3(JAK3):c.354C>T (p.Phe118=) rs751336782
NM_000215.3(JAK3):c.362G>A (p.Arg121His) rs143586866
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.446G>C (p.Arg149Pro)
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000215.3(JAK3):c.478G>T (p.Gly160Cys)
NM_000215.3(JAK3):c.512C>T (p.Ala171Val)
NM_000215.3(JAK3):c.5C>T (p.Ala2Val) rs1568408509
NM_000215.3(JAK3):c.630G>A (p.Arg210=) rs201101011
NM_000215.3(JAK3):c.631A>C (p.Arg211=) rs56269787
NM_000215.3(JAK3):c.653G>T (p.Arg218Leu)
NM_000215.3(JAK3):c.696C>T (p.His232=) rs199902822
NM_000215.3(JAK3):c.81T>A (p.His27Gln) rs1039181282
NM_000215.3(JAK3):c.828C>A (p.Asp276Glu)
NM_000215.3(JAK3):c.[1796T>G;2125T>A]
NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)
NM_000732.4(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000732.4(CD3D):c.211T>C (p.Tyr71His)
NM_000732.4(CD3D):c.244A>G (p.Lys82Glu) rs1555119773
NM_000732.4(CD3D):c.274+5G>A rs730880296
NM_000732.4(CD3D):c.274+8C>T rs1209300043
NM_000732.4(CD3D):c.279C>A (p.Cys93Ter) rs111033581
NM_000732.4(CD3D):c.418C>A (p.Gln140Lys) rs201126605
NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)
NM_000732.4(CD3D):c.450+6C>T rs193922617
NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)
NM_000732.4(CD3D):c.463C>T (p.Arg155Ter) rs777721098
NM_000732.4(CD3D):c.485A>T (p.His162Leu)
NM_000732.4(CD3D):c.52C>A (p.Gln18Lys) rs141902449
NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)
NM_000732.4(CD3D):c.76A>G (p.Ile26Val) rs201374139
NM_000733.3(CD3E):c.103+1G>T
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.176G>A (p.Trp59Ter) rs121918659
NM_000733.3(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000733.3(CD3E):c.216T>C (p.Asp72=) rs2231444
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)
NM_000733.3(CD3E):c.323C>T (p.Ala108Val) rs35299792
NM_000733.3(CD3E):c.353-5C>A rs374456909
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) rs200258299
NM_000733.3(CD3E):c.49+3G>A rs202200315
NM_000733.3(CD3E):c.498G>A (p.Ala166=) rs78373007
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000733.3(CD3E):c.520+2T>C rs483352928
NM_000733.3(CD3E):c.54C>T (p.Gly18=) rs1126924
NM_000733.3(CD3E):c.567+10G>T
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) rs141553540
NM_000733.3(CD3E):c.617G>A (p.Arg206His)
NM_001193333.2(CORO1A):c.1065+9C>T rs117288362
NM_001193333.2(CORO1A):c.1097C>A (p.Pro366His) rs150857828
NM_001193333.2(CORO1A):c.1101C>T (p.Thr367=) rs139282852
NM_001193333.2(CORO1A):c.1204C>T (p.Arg402Trp) rs150186033
NM_001193333.2(CORO1A):c.1247G>A (p.Arg416Lys) rs1555491117
NM_001193333.2(CORO1A):c.1252G>A (p.Ala418Thr)
NM_001193333.2(CORO1A):c.1280C>T (p.Ser427Leu)
NM_001193333.2(CORO1A):c.222G>A (p.Ala74=) rs747607776
NM_001193333.2(CORO1A):c.347T>C (p.Leu116Pro)
NM_001193333.2(CORO1A):c.362G>A (p.Arg121Gln)
NM_001193333.2(CORO1A):c.400G>A (p.Val134Met) rs397514755
NM_001193333.2(CORO1A):c.520G>A (p.Val174Met)
NM_001193333.2(CORO1A):c.616C>T (p.Arg206Cys)
NM_001193333.2(CORO1A):c.630C>T (p.Val210=) rs139989282
NM_001193333.2(CORO1A):c.670G>A (p.Val224Met)
NM_001193333.2(CORO1A):c.670_673GTGC[1] (p.Arg225fs)
NM_001193333.2(CORO1A):c.764T>C (p.Leu255Pro)
NM_001193333.2(CORO1A):c.792G>A (p.Leu264=) rs139024575
NM_001193333.2(CORO1A):c.804C>T (p.Ser268=) rs149867063
NM_001193333.2(CORO1A):c.969C>A (p.Pro323=) rs1555490997
NM_007074.3(CORO1A):c.1078delC rs606231256
NM_007074.3(CORO1A):c.248_249del rs606231246
NM_007074.3(CORO1A):c.[1078delC];[248_249delCT]
NM_014387.4(LAT):c.268_269del (p.Gly90fs) rs781410769
NM_014387.4(LAT):c.44dup (p.Leu16fs) rs1555524788
NM_198053.2(CD247):c.128G>T (p.Gly43Val) rs1557996000
NM_198053.2(CD247):c.15G>A (p.Ala5=) rs746701386
NM_198053.2(CD247):c.162+8C>A
NM_198053.2(CD247):c.177A>G (p.Ala59=) rs373031213
NM_198053.2(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.2(CD247):c.208_209inv (p.Gln70Trp) rs193922739
NM_198053.2(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.2(CD247):c.209A>T (p.Gln70Leu) rs193922740
NM_198053.2(CD247):c.246G>A (p.Glu82=) rs34940956
NM_198053.2(CD247):c.249C>T (p.Tyr83=) rs33937946
NM_198053.2(CD247):c.250G>C (p.Asp84His)
NM_198053.2(CD247):c.263A>G (p.Lys88Arg)
NM_198053.2(CD247):c.275G>A (p.Arg92Gln)
NM_198053.2(CD247):c.27G>A (p.Ala9=) rs757294201
NM_198053.2(CD247):c.294A>G (p.Gly98=) rs1453205554
NM_198053.2(CD247):c.2T>C (p.Met1Thr) rs672601318
NM_198053.2(CD247):c.300+8T>A rs56199250
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198053.2(CD247):c.394C>T (p.Arg132Cys)
NM_198053.2(CD247):c.39G>A (p.Gln13=) rs760945719
NM_198053.2(CD247):c.411G>C (p.Gly137=) rs148298128
NM_198053.2(CD247):c.427C>T (p.Gln143Ter) rs759213998
NM_198053.2(CD247):c.462C>T (p.Asp154=) rs181656780
NM_198053.2(CD247):c.491G>A (p.Arg164His) rs201937405
NM_198053.2(CD247):c.51dup (p.Ile18fs) rs1553238837

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