ClinVar Miner

List of variants reported as pathogenic for T-B+ severe combined immunodeficiency by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_002185.5(IL7R):c.221+2T>G rs200044623 0.00002
NM_002185.5(IL7R):c.538-1G>A rs1315265916 0.00002
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter) rs137852625 0.00001
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter) rs1198251679 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_000732.6(CD3D):c.274+5G>A rs730880296 0.00001
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter) rs111033581 0.00001
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter) rs201840561 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter) rs201559094 0.00001
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405 0.00001
NM_002185.5(IL7R):c.675C>A (p.Tyr225Ter) rs1390410878 0.00001
NM_002185.5(IL7R):c.83-1G>A rs200803157 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_198053.3(CD247):c.51dup (p.Ile18fs) rs1553238837 0.00001
NC_000001.10:g.(?_167487625)_(167487702_?)del
NC_000005.10:g.(?_35860832)_(35871233_?)del
NC_000005.10:g.(?_35867286)_(35867483_?)del
NC_000005.9:g.(?_35857060)_(35857181_?)del
NC_000011.9:g.(?_117856768)_(118972385_?)del
NC_000011.9:g.(?_118175668)_(118179176_?)del
NC_000016.10:g.(?_30066878)_(30188596_?)del
NC_000016.10:g.(?_30066878)_(30188984_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_30196531)_30199897del
NC_000019.9:g.(?_17940897)_(17943758_?)del
NC_000023.10:g.(?_70328107)_(70328216_?)del
NC_000023.10:g.(?_70330774)_(70331695_?)del
NC_000023.11:g.(?_71108277)_(71108346_?)del
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter) rs1556331272
NM_000206.3(IL2RG):c.115+2T>C rs2147751760
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs) rs2092262555
NM_000206.3(IL2RG):c.148del (p.Leu50fs) rs2147751090
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg) rs1602289649
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter) rs1282558220
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter) rs2147750927
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) rs1602289631
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000206.3(IL2RG):c.270-15A>G rs886039387
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter) rs1569480047
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs) rs2147751892
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter) rs775704953
NM_000206.3(IL2RG):c.294del (p.Val99fs) rs2092261618
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs) rs2147750252
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter) rs2147750382
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
NM_000206.3(IL2RG):c.359dup (p.Glu121fs) rs2147750311
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter) rs1602289411
NM_000206.3(IL2RG):c.455-2A>C rs2092260728
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter) rs1556330568
NM_000206.3(IL2RG):c.52del (p.Leu18fs) rs2147751877
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs) rs2147749701
NM_000206.3(IL2RG):c.548del (p.Leu183fs) rs1556330562
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter) rs2092260520
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter) rs1556330552
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
NM_000206.3(IL2RG):c.594+1G>A
NM_000206.3(IL2RG):c.594+2_594+3del rs1602289183
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter) rs2147748363
NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter) rs1556330286
NM_000206.3(IL2RG):c.603_604del (p.Val202fs) rs2092258288
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter) rs2147748344
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp) rs869320658
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000206.3(IL2RG):c.677G>A (p.Arg226His) rs869320660
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn) rs2147748142
NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter) rs1556330234
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter) rs2147748109
NM_000206.3(IL2RG):c.758-1G>A rs886042051
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs) rs2147747375
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln) rs111033617
NM_000206.3(IL2RG):c.855-1G>A rs1556329822
NM_000206.3(IL2RG):c.855-2A>C rs2147746826
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.3(IL2RG):c.865dup (p.Arg289fs)
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln) rs137852510
NM_000206.3(IL2RG):c.879del (p.Lys294fs)
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs) rs1602288051
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000215.4(JAK3):c.101del (p.Gly34fs)
NM_000215.4(JAK3):c.1142+1G>C rs1232129873
NM_000215.4(JAK3):c.1142+1G>T
NM_000215.4(JAK3):c.115del (p.Gln39fs) rs755706305
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
NM_000215.4(JAK3):c.1165del (p.Leu389fs)
NM_000215.4(JAK3):c.1178dup (p.Ser394fs) rs2094235007
NM_000215.4(JAK3):c.123_126del (p.Phe43fs)
NM_000215.4(JAK3):c.1255-1G>A
NM_000215.4(JAK3):c.1280del (p.Gly427fs)
NM_000215.4(JAK3):c.1284C>A (p.Cys428Ter)
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.4(JAK3):c.1383dup (p.Leu462fs) rs2147691124
NM_000215.4(JAK3):c.1432dup (p.Arg478fs) rs769633203
NM_000215.4(JAK3):c.1476del (p.His492fs)
NM_000215.4(JAK3):c.1569G>A (p.Trp523Ter)
NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs) rs1599873591
NM_000215.4(JAK3):c.1701+1G>A
NM_000215.4(JAK3):c.1701+2T>A rs2147687373
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1786+3G>T
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter) rs149316157
NM_000215.4(JAK3):c.1869G>A (p.Trp623Ter)
NM_000215.4(JAK3):c.1888C>T (p.Gln630Ter)
NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
NM_000215.4(JAK3):c.2028del (p.Ala677fs)
NM_000215.4(JAK3):c.2263del (p.Leu754_Leu755insTer)
NM_000215.4(JAK3):c.2272C>T (p.Gln758Ter)
NM_000215.4(JAK3):c.2319_2325dup (p.Asp776delinsHisSerTer)
NM_000215.4(JAK3):c.2324G>A (p.Arg775His) rs1251299279
NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)
NM_000215.4(JAK3):c.235_242dup (p.Trp81fs)
NM_000215.4(JAK3):c.2408G>A (p.Trp803Ter)
NM_000215.4(JAK3):c.2419C>T (p.Gln807Ter)
NM_000215.4(JAK3):c.2477C>G (p.Ser826Ter)
NM_000215.4(JAK3):c.2523_2532del (p.Arg840_Tyr841insTer)
NM_000215.4(JAK3):c.2552del (p.Leu851fs)
NM_000215.4(JAK3):c.2680+89G>A
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.2787T>G (p.Tyr929Ter)
NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)
NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)
NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter) rs2147674587
NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)
NM_000215.4(JAK3):c.523C>T (p.Arg175Ter)
NM_000215.4(JAK3):c.548del (p.Glu183fs)
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr) rs1467075214
NM_000215.4(JAK3):c.607C>T (p.Gln203Ter)
NM_000215.4(JAK3):c.664_670del (p.Arg222fs)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.722_723insAGGA (p.Asp241fs)
NM_000215.4(JAK3):c.862-2A>G rs1057523762
NM_000215.4(JAK3):c.904_908dup (p.Lys304fs)
NM_000215.4(JAK3):c.936dup (p.Gly313fs)
NM_000215.4(JAK3):c.958_959del (p.Val320fs)
NM_000215.4(JAK3):c.970_973del (p.Asp324fs)
NM_000732.6(CD3D):c.128G>A (p.Trp43Ter) rs1591278347
NM_000732.6(CD3D):c.15del (p.Leu7fs)
NM_000732.6(CD3D):c.18dup (p.Leu7fs)
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)
NM_000732.6(CD3D):c.271C>T (p.Arg91Ter)
NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)
NM_000732.6(CD3D):c.51_52del (p.Gln18fs) rs1180673589
NM_000732.6(CD3D):c.9_10del (p.His3fs)
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)
NM_000733.4(CD3E):c.261_262del (p.Ser88fs) rs1249197356
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
NM_000733.4(CD3E):c.428del (p.Gly143fs)
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)
NM_000733.4(CD3E):c.49+1G>A
NM_000733.4(CD3E):c.49+1G>C
NM_002185.5(IL7R):c.126C>G (p.Cys42Trp) rs1759788196
NM_002185.5(IL7R):c.177del (p.Phe59fs)
NM_002185.5(IL7R):c.190_193dup (p.Asn65fs)
NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.291_294del (p.Lys97fs) rs1554066684
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter) rs1448018291
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002185.5(IL7R):c.37del (p.Ser13fs) rs1759660930
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) rs1561423197
NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)
NM_002185.5(IL7R):c.493del (p.His165fs)
NM_002185.5(IL7R):c.514del (p.Glu172fs) rs1225034187
NM_002185.5(IL7R):c.537+1G>A rs777878144
NM_002185.5(IL7R):c.538-2A>G
NM_002185.5(IL7R):c.562del (p.Lys187_Leu188insTer)
NM_002185.5(IL7R):c.589_598del (p.Pro197fs)
NM_002185.5(IL7R):c.623del (p.Ile208fs)
NM_002185.5(IL7R):c.639_640insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTGATCACTATTTT (p.Lys214delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) rs104893893
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082
NM_002185.5(IL7R):c.752del (p.Phe251fs)
NM_002185.5(IL7R):c.753dup (p.Ser252fs) rs1554067182
NM_002185.5(IL7R):c.76C>T (p.Gln26Ter)
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
NM_002185.5(IL7R):c.80del (p.Asn27fs)
NM_002838.5(PTPRC):c.1625_1626dup (p.Asp543fs) rs2102445016
NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)
NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)
NM_002838.5(PTPRC):c.2237_2238del (p.Thr746fs)
NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs) rs1571880941
NM_002838.5(PTPRC):c.260del (p.Pro87fs)
NM_002838.5(PTPRC):c.2620del (p.Glu874fs)
NM_002838.5(PTPRC):c.2668C>T (p.Arg890Ter)
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter) rs779246448
NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter) rs2102393172
NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)
NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)
NM_002838.5(PTPRC):c.590del (p.Tyr197fs)
NM_007074.4(CORO1A):c.1078del (p.Gln360fs) rs606231256
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs) rs606231246
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)
NM_007074.4(CORO1A):c.674_677del (p.Arg225fs) rs1213680890
NM_007074.4(CORO1A):c.855_856del (p.Cys285fs) rs2151063096
NM_198053.3(CD247):c.235C>T (p.Arg79Ter) rs779397562

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