ClinVar Miner

List of variants reported as pathogenic for B cell deficiency by Invitae

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 388
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_020661.4(AICDA):c.416T>C (p.Met139Thr) rs200858797 0.00019
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) rs185689791 0.00004
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter) rs770266168 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter) rs772481080 0.00002
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) rs201017642 0.00002
NM_012452.3(TNFRSF13B):c.62-1G>A rs759649059 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_080911.3(UNG):c.685C>T (p.Arg229Ter) rs772214871 0.00002
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) rs1477466218 0.00001
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) rs1334688271 0.00001
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) rs1030733127 0.00001
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter) rs760342862 0.00001
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 0.00001
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter) rs1268711491 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) rs72553878 0.00001
NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs) rs2087501902 0.00001
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter) rs1286642936 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_012452.3(TNFRSF13B):c.62-2A>G rs1286673507 0.00001
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter) rs1554894837 0.00001
NM_020661.4(AICDA):c.259T>C (p.Cys87Arg) rs762590894 0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) rs1057520542 0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_139276.3(STAT3):c.833G>A (p.Arg278His) rs2082128828 0.00001
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) rs1230037871 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter) rs770748316 0.00001
NM_203447.4(DOCK8):c.2971-1G>A rs777066716 0.00001
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs) rs762990689 0.00001
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter) rs113432057 0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000004.11:g.(?_151336570)_(151520303_?)del
NC_000004.11:g.(?_151504182)_(151656538_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)del
NC_000004.11:g.(?_151814184)_(151814321_?)del
NC_000004.12:g.(?_150310209)_(150350179_?)del
NC_000004.12:g.(?_150415418)_(150817277_?)del
NC_000004.12:g.(?_150588028)_(150735386_?)del
NC_000004.12:g.(?_150683531)_(150761867_?)del
NC_000004.12:g.(?_150735238)_(150735386_?)del
NC_000004.12:g.(?_150761763)_(150761867_?)del
NC_000004.12:g.(?_150893032)_(150897838_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147470708)_(147470811_?)del
NC_000009.11:g.(?_214957)_(286656_?)del
NC_000009.11:g.(?_214977)_(215049_?)del
NC_000009.11:g.(?_214977)_(340341_?)del
NC_000009.11:g.(?_214977)_(368155_?)del
NC_000009.11:g.(?_214977)_(377231_?)del
NC_000009.11:g.(?_214977)_(399279_?)del
NC_000009.11:g.(?_214977)_(464219_?)del
NC_000009.11:g.(?_216117)_(399130_?)del
NC_000009.11:g.(?_271607)_(289601_?)del
NC_000009.11:g.(?_271607)_(328191_?)del
NC_000009.11:g.(?_271607)_(332498_?)del
NC_000009.11:g.(?_271607)_(334404_?)del
NC_000009.11:g.(?_271607)_(370320_?)del
NC_000009.11:g.(?_271607)_(382705_?)del
NC_000009.11:g.(?_271607)_(434995_?)del
NC_000009.11:g.(?_289490)_(399279_?)del
NC_000009.11:g.(?_304561)_(414971_?)del
NC_000009.11:g.(?_311934)_(317148_?)del
NC_000009.11:g.(?_322388)_(376266_?)del
NC_000009.11:g.(?_325651)_(332498_?)del
NC_000009.11:g.(?_325651)_(336738_?)del
NC_000009.11:g.(?_325651)_(386446_?)del
NC_000009.11:g.(?_334205)_(334404_?)del
NC_000009.11:g.(?_334205)_(452137_?)del
NC_000009.11:g.(?_367998)_(464219_?)del
NC_000009.11:g.(?_376190)_(377231_?)del
NC_000009.11:g.(?_386311)_(407089_?)del
NC_000009.11:g.(?_386311)_(422155_?)del
NC_000009.11:g.(?_390451)_(422155_?)del
NC_000009.11:g.(?_396765)_(407089_?)del
NC_000009.11:g.(?_399126)_(422155_?)del
NC_000009.11:g.(?_426865)_(427001_?)del
NC_000009.11:g.(?_426865)_(429874_?)del
NC_000009.12:g.(?_214957)_(215049_?)del
NC_000009.12:g.(?_214957)_(328191_?)del
NC_000009.12:g.(?_214957)_(422155_?)del
NC_000009.12:g.(?_214957)_(464239_?)del
NC_000009.12:g.(?_271607)_(340341_?)del
NC_000009.12:g.(?_271607)_(452137_?)del
NC_000009.12:g.(?_286441)_(464239_?)del
NC_000009.12:g.(?_304561)_(399279_?)del
NC_000009.12:g.(?_304561)_(464239_?)del
NC_000009.12:g.(?_332378)_(334404_?)del
NC_000009.12:g.(?_334205)_(340341_?)del
NC_000009.12:g.(?_336562)_(386446_?)del
NC_000009.12:g.(?_370210)_(452137_?)del
NC_000010.11:g.(?_96271332)_(96271418_?)del
NC_000012.12:g.(?_8456112)_(8612767_?)del
NC_000012.12:g.(?_8604264)_(8612787_?)del
NC_000017.10:g.(?_16875309)_(16875389_?)del
NC_000019.10:g.41878996_41879009del
NC_000023.10:g.(?_135067662)_(136652229_?)del
NC_000023.10:g.(?_135730388)_(135737600_?)del
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) rs2076095044
NM_000074.3(CD40LG):c.138del (p.His47fs)
NM_000074.3(CD40LG):c.156+1G>A
NM_000074.3(CD40LG):c.156+2T>C rs2148550585
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) rs2148550523
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
NM_000074.3(CD40LG):c.289-1G>A rs2148552379
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) rs1569376930
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
NM_000074.3(CD40LG):c.346+1G>A rs2148552407
NM_000074.3(CD40LG):c.346+1G>T
NM_000074.3(CD40LG):c.346+5G>A rs2148552412
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) rs1215852570
NM_000074.3(CD40LG):c.386del (p.Glu129fs) rs2076119100
NM_000074.3(CD40LG):c.401del (p.Thr134fs) rs2076119189
NM_000074.3(CD40LG):c.409+1G>C rs2148552941
NM_000074.3(CD40LG):c.409+2T>C
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
NM_000074.3(CD40LG):c.470del (p.Asn157fs) rs2148553684
NM_000074.3(CD40LG):c.474del (p.Lys159fs) rs2076126996
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) rs2076127075
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) rs2076127276
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) rs2148553738
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) rs1085307733
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) rs2076127875
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)
NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)
NM_001006658.3(CR2):c.1191del (p.Thr398fs) rs1658223688
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
NM_001006658.3(CR2):c.1646del (p.Gly549fs) rs1658320297
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) rs1331358695
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) rs1658357615
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
NM_001006658.3(CR2):c.243del (p.Lys81fs) rs1572950925
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) rs766671758
NM_001006658.3(CR2):c.2864_2865del (p.His955fs) rs2102308703
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) rs369363360
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
NM_001006658.3(CR2):c.40dup (p.Val14fs)
NM_001006658.3(CR2):c.412del (p.Trp138fs)
NM_001006658.3(CR2):c.592_595del (p.Ser199fs) rs868255776
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.717del (p.Phe241fs) rs1468427986
NM_001006658.3(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2602_2605dup (p.Gly869fs) rs2135443636
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter) rs2061279365
NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)
NM_001364905.1(LRBA):c.1697del (p.Lys566fs) rs2127154885
NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter) rs2127154743
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs) rs745453685
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter) rs199750191
NM_001364905.1(LRBA):c.205_206del (p.Val69fs) rs1745202896
NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)
NM_001364905.1(LRBA):c.2240T>A (p.Leu747Ter)
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2559_2560del (p.Ser853fs)
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.2614del (p.Ser872fs) rs2126988253
NM_001364905.1(LRBA):c.2625T>A (p.Tyr875Ter)
NM_001364905.1(LRBA):c.2717G>A (p.Trp906Ter)
NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)
NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)
NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer) rs777413769
NM_001364905.1(LRBA):c.2963del (p.Asn988fs) rs1750760771
NM_001364905.1(LRBA):c.3048T>G (p.Tyr1016Ter)
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs) rs1750723817
NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs)
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer) rs1750701604
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter) rs1319094744
NM_001364905.1(LRBA):c.3989_3990dup (p.Gln1331fs)
NM_001364905.1(LRBA):c.448+1G>T rs1032290659
NM_001364905.1(LRBA):c.4750dup (p.Ser1584fs)
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.488del (p.Asn163fs) rs2149508349
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5024del (p.Asn1675fs)
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs) rs2126810852
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer) rs2126810458
NM_001364905.1(LRBA):c.5231dup (p.Pro1745fs)
NM_001364905.1(LRBA):c.5254del (p.Val1752fs)
NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter)
NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs) rs1772348297
NM_001364905.1(LRBA):c.6235del (p.Ser2079fs) rs1051619342
NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter) rs2126438478
NM_001364905.1(LRBA):c.6319del (p.Ile2107fs) rs34237929
NM_001364905.1(LRBA):c.6551+1del rs1320366310
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter) rs2151995373
NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter) rs1581303476
NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter)
NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter)
NM_001364905.1(LRBA):c.7928del (p.Asn2643fs) rs2126848251
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8205dup (p.Gln2736fs)
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter) rs1580875488
NM_001364905.1(LRBA):c.893del (p.Lys298fs) rs2149489346
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
NM_001783.4(CD79A):c.198G>A (p.Trp66Ter) rs1568801716
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn) rs2100954909
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser) rs2100954945
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly) rs1064795762
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)
NM_012092.4(ICOS):c.181del (p.Ile61fs) rs1690066397
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter) rs537195517
NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)
NM_012092.4(ICOS):c.294del (p.Leu99fs)
NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter) rs2105754294
NM_012092.4(ICOS):c.357del (p.Phe119fs)
NM_012092.4(ICOS):c.61G>T (p.Glu21Ter) rs1015881666
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs) rs1265262160
NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter) rs1383649750
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_012452.3(TNFRSF13B):c.61+1G>T rs1016142312
NM_012452.3(TNFRSF13B):c.61+2T>C rs760885614
NM_012452.3(TNFRSF13B):c.91_92del (p.Met31fs)
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs) rs1303637368
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.4(BLNK):c.1031del (p.Lys344fs) rs2133946382
NM_013314.4(BLNK):c.26del (p.Val9fs)
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)
NM_080911.3(UNG):c.162del (p.Gln55fs)
NM_080911.3(UNG):c.250dup (p.Arg84fs)
NM_080911.3(UNG):c.366_369del (p.Arg122fs) rs757311287
NM_080911.3(UNG):c.392del (p.Pro131fs)
NM_080911.3(UNG):c.39del (p.Ser14fs)
NM_080911.3(UNG):c.569_570del (p.Ile190fs) rs772764942
NM_080911.3(UNG):c.730C>T (p.Gln244Ter) rs751126274
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1110-2A>G rs2144778323
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1145G>C (p.Arg382Pro)
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr)
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr) rs2081903545
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1311C>A (p.His437Gln) rs1598399795
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr) rs1057521091
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser) rs1567708034
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile)
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr)
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe)
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr)
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala) rs2144683531
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln)
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) rs1555563717
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) rs886039434
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met) rs2144622987
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro) rs1131691476
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu)
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile) rs2081287195
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139276.3(STAT3):c.986T>A (p.Met329Lys) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) rs1289537429
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) rs1339790364
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) rs367669362
NM_181523.3(PIK3R1):c.965del (p.Met322fs) rs1580260232
NM_203447.4(DOCK8):c.1125+1G>A
NM_203447.4(DOCK8):c.1134_1138del (p.Glu378fs)
NM_203447.4(DOCK8):c.1271_1274dup (p.Ser426fs) rs2130879011
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) rs112321280
NM_203447.4(DOCK8):c.1470del (p.Tyr491fs)
NM_203447.4(DOCK8):c.1473del (p.Asp490_Tyr491insTer)
NM_203447.4(DOCK8):c.1497_1501del (p.Arg499fs)
NM_203447.4(DOCK8):c.1589_1614del (p.Val530fs)
NM_203447.4(DOCK8):c.1648C>T (p.Arg550Ter) rs1057518028
NM_203447.4(DOCK8):c.1878del (p.Tyr628fs)
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter) rs1287635563
NM_203447.4(DOCK8):c.2010dup (p.Leu671fs)
NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter) rs372503899
NM_203447.4(DOCK8):c.27_28del (p.Ala11fs) rs1312725371
NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881
NM_203447.4(DOCK8):c.3340dup (p.Met1114fs)
NM_203447.4(DOCK8):c.3371_3377dup (p.Ile1127fs)
NM_203447.4(DOCK8):c.3500_3507dup (p.Ala1170fs) rs112659914
NM_203447.4(DOCK8):c.3547del (p.Arg1183fs)
NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)
NM_203447.4(DOCK8):c.3803del (p.Phe1268fs) rs2056112807
NM_203447.4(DOCK8):c.4070C>A (p.Ser1357Ter)
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter) rs1476130680
NM_203447.4(DOCK8):c.4163del (p.Arg1388fs) rs2131648737
NM_203447.4(DOCK8):c.4215G>A (p.Trp1405Ter)
NM_203447.4(DOCK8):c.4235dup (p.Asp1413fs)
NM_203447.4(DOCK8):c.4974C>G (p.Tyr1658Ter)
NM_203447.4(DOCK8):c.510C>A (p.Cys170Ter)
NM_203447.4(DOCK8):c.5161C>T (p.Gln1721Ter) rs754989398
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs) rs886041815
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter) rs775544616
NM_203447.4(DOCK8):c.5481dup (p.Arg1828Ter) rs2131814069
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs) rs869312169
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)
NM_203447.4(DOCK8):c.6115C>T (p.Gln2039Ter) rs2131982095
NM_203447.4(DOCK8):c.760del (p.Arg254fs) rs2130746906
NM_203447.4(DOCK8):c.851del (p.Leu284fs) rs2130807292

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.