ClinVar Miner

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

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.4491T>C (p.Phe1497=) rs7854035 0.99726
NM_001322934.2(NFKB2):c.1821A>G (p.Ala607=) rs4919634 0.99720
NM_001322934.2(NFKB2):c.1269A>G (p.Pro423=) rs4919633 0.98899
NM_001322934.2(NFKB2):c.662-11C>T rs4919632 0.92540
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=) rs1887957 0.75495
NM_203447.4(DOCK8):c.4785+6C>G rs7036567 0.70190
NM_203447.4(DOCK8):c.4886+3A>G rs2360712 0.69369
NM_203447.4(DOCK8):c.895-16T>C rs2296828 0.66765
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_001364905.1(LRBA):c.7849+10A>G rs1813134 0.62993
NM_020661.4(AICDA):c.156+16G>A rs2518144 0.55804
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_003809.3(TNFSF12):c.600G>C (p.Ala200=) rs3803798 0.50487
NM_001364905.1(LRBA):c.8317-341T>C rs2290847 0.49343
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=) rs11078355 0.48964
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr) rs529208 0.47790
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=) rs2297079 0.44487
NM_001006658.3(CR2):c.1776G>A (p.Leu592=) rs1048971 0.42495
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val) rs506121 0.32449
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30786
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser) rs10970979 0.24995
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=) rs10814431 0.24804
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=) rs913703 0.23408
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr) rs3749574 0.21105
NM_003809.3(TNFSF12):c.276C>A (p.Arg92=) rs62059804 0.20757
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu) rs2290846 0.18590
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_001364905.1(LRBA):c.5550T>C (p.Val1850=) rs1129998 0.17226
NM_001006658.3(CR2):c.-71T>C rs3813946 0.15667
NM_203447.4(DOCK8):c.1692T>C (p.Tyr564=) rs10972587 0.13521
NM_012452.3(TNFRSF13B):c.752C>T (p.Pro251Leu) rs34562254 0.12363
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12249
NM_003809.3(TNFSF12):c.72C>T (p.Leu24=) rs77711855 0.11708
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn) rs3209441 0.11431
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.10956
NM_001364905.1(LRBA):c.1347A>G (p.Ala449=) rs1201208 0.10667
NM_203447.4(DOCK8):c.5832G>A (p.Pro1944=) rs10491684 0.09400
NM_001006658.3(CR2):c.2328T>C (p.Ile776=) rs61735651 0.09124
NM_001006658.3(CR2):c.58+97G>A rs1876453 0.08516
NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val) rs17673268 0.07826
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07668
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_203447.4(DOCK8):c.3234+8del rs112565335 0.07045
NM_139276.3(STAT3):c.1049+452C>A rs17881320 0.06054
NM_001364905.1(LRBA):c.1015-9C>T rs765923836 0.06006
NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722 0.05757
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=) rs2230735 0.03898
NM_013314.4(BLNK):c.48G>A (p.Arg16=) rs11540858 0.03732
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851 0.03687
NM_139276.3(STAT3):c.2144+20C>T rs8069115 0.03624
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122 0.03470
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_203447.4(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631 0.03284
NM_203447.4(DOCK8):c.2295C>T (p.Ser765=) rs12348944 0.03237
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703 0.03034
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668 0.02942
NM_203447.4(DOCK8):c.5818-14C>T rs10124592 0.02927
NM_203447.4(DOCK8):c.3021T>C (p.Phe1007=) rs7034926 0.02921
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys) rs11789099 0.02275
NM_005026.5(PIK3CD):c.1522-19T>C rs77571929 0.02260
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_001006658.3(CR2):c.1617C>T (p.Thr539=) rs34349246 0.02179
NM_005026.5(PIK3CD):c.1689+20T>C rs181919452 0.02153
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
NM_001006658.3(CR2):c.2649T>C (p.Gly883=) rs1143665 0.02114
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_080911.3(UNG):c.759C>G (p.Leu253=) rs76391872 0.02053
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_013314.4(BLNK):c.195C>T (p.Ser65=) rs12261820 0.01993
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420 0.01937
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_005026.5(PIK3CD):c.371-3C>T rs113176101 0.01792
NM_005026.5(PIK3CD):c.931-9G>C rs28730669 0.01748
NM_003809.3(TNFSF12):c.642G>T (p.Gly214=) rs4968189 0.01736
NM_001364905.1(LRBA):c.1603-4G>T rs143754610 0.01729
NM_003809.3(TNFSF12):c.338-9A>G rs114577645 0.01655
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768 0.01195
NM_203447.4(DOCK8):c.528+13A>G rs116483820 0.01176
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_001364905.1(LRBA):c.8106G>C (p.Leu2702Phe) rs34662958 0.01130
NM_203447.4(DOCK8):c.2739C>T (p.Ser913=) rs116523732 0.01126
NM_203447.4(DOCK8):c.1679+18G>A rs75894443 0.01123
NM_203447.4(DOCK8):c.3234+16A>C rs77395345 0.01120
NM_001322934.2(NFKB2):c.1269= (p.Pro423=) rs4919633 0.01101
NM_203447.4(DOCK8):c.5001C>T (p.His1667=) rs35662752 0.01091
NM_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_203447.4(DOCK8):c.3441C>T (p.Phe1147=) rs34621129 0.01036
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279 0.01026
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=) rs34098809 0.00985
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_000626.4(CD79B):c.312C>T (p.Leu104=) rs116625909 0.00851
NM_203447.4(DOCK8):c.2971-14A>G rs140114637 0.00841
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile) rs34678304 0.00820
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930 0.00813
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_001006658.3(CR2):c.635-20A>T rs17045039 0.00789
NM_001006658.3(CR2):c.445+17A>G rs145095346 0.00786
NM_012092.4(ICOS):c.40C>T (p.Arg14Cys) rs77411896 0.00783
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_052945.4(TNFRSF13C):c.192C>T (p.Gly64=) rs529563231 0.00721
NM_139276.3(STAT3):c.711C>T (p.Asp237=) rs17882069 0.00712
NM_181523.3(PIK3R1):c.1118+11G>A rs140892282 0.00661
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val) rs35612775 0.00642
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_080911.3(UNG):c.291C>T (p.Ser97=) rs3219210 0.00624
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_203447.4(DOCK8):c.2862A>T (p.Pro954=) rs117610764 0.00615
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_001364905.1(LRBA):c.8088G>A (p.Ala2696=) rs78563281 0.00553
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val) rs1064419 0.00538
NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile) rs144075435 0.00520
NM_203447.4(DOCK8):c.5154C>T (p.Cys1718=) rs140431229 0.00514
NM_005026.5(PIK3CD):c.1002C>T (p.Asn334=) rs28730670 0.00506
NM_001364905.1(LRBA):c.3825+15T>G rs74366731 0.00494
NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=) rs75761402 0.00493
NM_203447.4(DOCK8):c.5187A>G (p.Val1729=) rs111535933 0.00493
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=) rs145697393 0.00469
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_001364905.1(LRBA):c.1689C>A (p.Pro563=) rs115894255 0.00443
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_001322934.2(NFKB2):c.1212G>T (p.Gly404=) rs55847683 0.00399
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932 0.00387
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_001322934.2(NFKB2):c.1869G>A (p.Gly623=) rs138786808 0.00361
NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu) rs35250375 0.00360
NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=) rs28730672 0.00360
NM_001006658.3(CR2):c.2240+19A>G rs140933861 0.00357
NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=) rs116828023 0.00357
NM_052945.4(TNFRSF13C):c.282C>T (p.Val94=) rs190252814 0.00351
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674 0.00337
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) rs36063307 0.00313
NM_013314.4(BLNK):c.270G>A (p.Glu90=) rs17111469 0.00302
NM_203447.4(DOCK8):c.1356G>A (p.Leu452=) rs113175936 0.00301
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val) rs138173151 0.00282
NM_001322934.2(NFKB2):c.1821= (p.Ala607=) rs4919634 0.00280
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_203447.4(DOCK8):c.1516+16C>G rs141986056 0.00266
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_005026.5(PIK3CD):c.2235C>T (p.Cys745=) rs138742347 0.00252
NM_000626.4(CD79B):c.118+12C>T rs150429226 0.00242
NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val) rs118037378 0.00242
NM_020661.4(AICDA):c.428-18C>T rs201393772 0.00235
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_203447.4(DOCK8):c.528+7C>A rs114833839 0.00207
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_001364905.1(LRBA):c.5031T>C (p.Asn1677=) rs114738831 0.00197
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
NM_001364905.1(LRBA):c.217-9C>T rs1163872504 0.00190
NM_203447.4(DOCK8):c.15G>A (p.Pro5=) rs148276394 0.00188
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=) rs150550923 0.00185
NM_020070.4(IGLL1):c.393T>C (p.Ala131=) rs1064424 0.00182
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr) rs144903484 0.00175
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_020661.4(AICDA):c.369C>T (p.Pro123=) rs199980715 0.00171
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001364905.1(LRBA):c.8460C>T (p.Tyr2820=) rs76608264 0.00170
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_001364905.1(LRBA):c.2472C>T (p.Thr824=) rs149235577 0.00163
NM_001006658.3(CR2):c.1225+11C>T rs199538918 0.00153
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001322934.2(NFKB2):c.1826G>A (p.Arg609Gln) rs200092317 0.00151
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
NM_203447.4(DOCK8):c.332+9T>G rs113744378 0.00145
NM_203447.4(DOCK8):c.640C>T (p.Leu214=) rs150446322 0.00143
NM_003809.3(TNFSF12):c.597G>A (p.Ala199=) rs143039184 0.00141
NM_003809.3(TNFSF12):c.609C>T (p.Leu203=) rs140608168 0.00140
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_005026.5(PIK3CD):c.1863C>T (p.Tyr621=) rs151235777 0.00139
NM_001364905.1(LRBA):c.6046+1886T>C rs72959815 0.00138
NM_020070.4(IGLL1):c.207-9T>A rs201800585 0.00137
NM_012452.3(TNFRSF13B):c.618C>T (p.Ala206=) rs147846226 0.00133
NM_203447.4(DOCK8):c.3234+8T>C rs112290938 0.00132
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001322934.2(NFKB2):c.2224-15C>T rs142623210 0.00125
NM_013314.4(BLNK):c.132T>A (p.Pro44=) rs147203646 0.00125
NM_001364905.1(LRBA):c.4323G>T (p.Arg1441=) rs145003932 0.00124
NM_203447.4(DOCK8):c.5781C>T (p.Tyr1927=) rs138225192 0.00122
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=) rs141494621 0.00121
NM_005026.5(PIK3CD):c.1470+13C>T rs553468301 0.00120
NM_001364905.1(LRBA):c.5754+15T>C rs112952572 0.00118
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_203447.4(DOCK8):c.3813A>G (p.Lys1271=) rs75411647 0.00115
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_052945.4(TNFRSF13C):c.367+18G>A rs200206184 0.00114
NM_005026.5(PIK3CD):c.3093G>C (p.Val1031=) rs149090253 0.00113
NM_001364905.1(LRBA):c.52G>A (p.Gly18Arg) rs150755521 0.00110
NM_203447.4(DOCK8):c.1881T>C (p.Phe627=) rs140134223 0.00105
NM_001364905.1(LRBA):c.2258+11C>T rs200986195 0.00102
NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=) rs72719631 0.00099
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
NM_203447.4(DOCK8):c.5818-16T>C rs202115648 0.00098
NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=) rs144748889 0.00096
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) rs117691970 0.00089
NM_139276.3(STAT3):c.225G>A (p.Ser75=) rs146184566 0.00089
NM_203447.4(DOCK8):c.3841-11C>T rs372829200 0.00089
NM_001364905.1(LRBA):c.204T>C (p.Thr68=) rs143383047 0.00085
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092 0.00085
NM_203447.4(DOCK8):c.4588C>G (p.Leu1530Val) rs536373496 0.00084
NM_001322934.2(NFKB2):c.1608C>A (p.Ile536=) rs34916280 0.00083
NM_005026.5(PIK3CD):c.1812-17G>A rs201032317 0.00083
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_052945.4(TNFRSF13C):c.368-15C>A rs372331667 0.00073
NM_203447.4(DOCK8):c.333-13T>A rs371504395 0.00072
NM_203447.4(DOCK8):c.1422+17C>T rs200839477 0.00071
NM_003809.3(TNFSF12):c.160-19G>A rs137994694 0.00069
NM_001006658.3(CR2):c.1978+7A>T rs201274951 0.00068
NM_181523.3(PIK3R1):c.334+12T>C rs189754791 0.00068
NM_203447.4(DOCK8):c.679G>A (p.Glu227Lys) rs76276364 0.00068
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_001364905.1(LRBA):c.2469G>A (p.Ala823=) rs144453185 0.00064
NM_005026.5(PIK3CD):c.371-5C>T rs149617980 0.00064
NM_012092.4(ICOS):c.375A>G (p.Gly125=) rs768500706 0.00064
NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser) rs199739266 0.00060
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029 0.00057
NM_203447.4(DOCK8):c.4887-16C>T rs200781199 0.00056
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=) rs143849749 0.00055
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) rs142236792 0.00054
NM_005026.5(PIK3CD):c.3114G>A (p.Val1038=) rs138398486 0.00053
NM_001322934.2(NFKB2):c.1296C>T (p.Cys432=) rs192635220 0.00052
NM_005026.5(PIK3CD):c.1021-20C>G rs199911701 0.00046
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.5355+6C>T rs188141951 0.00046
NM_005026.5(PIK3CD):c.825C>G (p.Thr275=) rs149175819 0.00043
NM_005026.5(PIK3CD):c.1047C>T (p.His349=) rs148357976 0.00039
NM_005026.5(PIK3CD):c.2427-7T>G rs369339827 0.00038
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_013314.4(BLNK):c.1096-16A>T rs80026049 0.00035
NM_001322934.2(NFKB2):c.2224-10G>A rs550812736 0.00034
NM_001364905.1(LRBA):c.3684T>C (p.Cys1228=) rs201219993 0.00032
NM_001006658.3(CR2):c.1494-17C>T rs150388945 0.00031
NM_001364905.1(LRBA):c.5581-12T>C rs192470940 0.00031
NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn) rs200809013 0.00031
NM_001364905.1(LRBA):c.7016G>T (p.Ser2339Ile) rs183574413 0.00030
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_001006658.3(CR2):c.1395A>G (p.Gln465=) rs188078143 0.00029
NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=) rs779365266 0.00027
NM_001322934.2(NFKB2):c.1117+7G>T rs188346889 0.00026
NM_012452.3(TNFRSF13B):c.570G>A (p.Gly190=) rs199810075 0.00026
NM_080911.3(UNG):c.622+10C>T rs201555956 0.00026
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086 0.00024
NM_001006658.3(CR2):c.200C>G (p.Thr67Ser) rs45573035 0.00024
NM_001006658.3(CR2):c.2445A>G (p.Gly815=) rs141282665 0.00024
NM_001364905.1(LRBA):c.4911C>T (p.Ile1637=) rs565094363 0.00024
NM_203447.4(DOCK8):c.5818-13G>A rs368826292 0.00024
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_001322934.2(NFKB2):c.1953C>G (p.Thr651=) rs372873787 0.00022
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu) rs191118242 0.00022
NM_001364905.1(LRBA):c.315G>A (p.Thr105=) rs755713891 0.00020
NM_139276.3(STAT3):c.1011C>T (p.Leu337=) rs200623682 0.00020
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_001364905.1(LRBA):c.2067+11A>G rs185860143 0.00019
NM_203447.4(DOCK8):c.4241+12G>A rs371073556 0.00019
NM_000626.4(CD79B):c.550-17T>C rs199521114 0.00018
NM_001006658.3(CR2):c.375C>T (p.Asn125=) rs138096192 0.00018
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) rs146620753 0.00016
NM_001006658.3(CR2):c.58+13G>A rs373721952 0.00016
NM_001322934.2(NFKB2):c.978C>T (p.Tyr326=) rs2295587 0.00016
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317 0.00015
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973 0.00014
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_080911.3(UNG):c.528G>A (p.Pro176=) rs373915335 0.00014
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu) rs140604473 0.00014
NM_020070.4(IGLL1):c.492G>A (p.Thr164=) rs148071349 0.00013
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) rs143571879 0.00013
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000626.4(CD79B):c.550-8G>A rs202115514 0.00012
NM_001364905.1(LRBA):c.3273A>G (p.Ser1091=) rs572733441 0.00012
NM_003809.3(TNFSF12):c.429T>G (p.Pro143=) rs770924960 0.00012
NM_005026.5(PIK3CD):c.2865-19C>T rs371194095 0.00012
NM_012092.4(ICOS):c.591G>A (p.Val197=) rs55655222 0.00012
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102 0.00011
NM_005026.5(PIK3CD):c.1470+16G>A rs573337389 0.00011
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=) rs377551435 0.00011
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) rs538021528 0.00011
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) rs767319189 0.00010
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) rs375387574 0.00010
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) rs374246579 0.00010
NM_001322934.2(NFKB2):c.1539C>T (p.His513=) rs533142885 0.00010
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_203447.4(DOCK8):c.5491-7T>A rs184867151 0.00010
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462 0.00009
NM_001322934.2(NFKB2):c.503-16T>C rs201456641 0.00009
NM_005026.5(PIK3CD):c.2998-15G>A rs200233248 0.00009
NM_203447.4(DOCK8):c.3603C>G (p.Arg1201=) rs149908718 0.00009
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) rs370353192 0.00008
NM_001006658.3(CR2):c.2241-6C>T rs200614122 0.00008
NM_001322934.2(NFKB2):c.2475C>T (p.Gly825=) rs200482499 0.00008
NM_001364905.1(LRBA):c.4350C>T (p.Val1450=) rs750711532 0.00008
NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=) rs190710687 0.00007
NM_005026.5(PIK3CD):c.342C>T (p.Asn114=) rs201273776 0.00007
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) rs779460863 0.00006
NM_001006658.3(CR2):c.1008T>C (p.Ser336=) rs201228014 0.00006
NM_001322934.2(NFKB2):c.1969-17G>A rs375150780 0.00006
NM_001322934.2(NFKB2):c.503-17A>G rs201960564 0.00006
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) rs145244024 0.00006
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) rs376582437 0.00005
NM_000074.3(CD40LG):c.741G>C (p.Val247=) rs764969326 0.00005
NM_001364905.1(LRBA):c.7041+14T>G rs201154634 0.00005
NM_003809.3(TNFSF12):c.204G>A (p.Pro68=) rs751381442 0.00005
NM_005026.5(PIK3CD):c.1824G>A (p.Leu608=) rs778839252 0.00005
NM_005026.5(PIK3CD):c.600+13G>A rs768012867 0.00005
NM_013314.4(BLNK):c.744C>T (p.Ala248=) rs147455437 0.00005
NM_203447.4(DOCK8):c.2646G>A (p.Thr882=) rs373515697 0.00005
NM_001322934.2(NFKB2):c.767-13G>A rs746075690 0.00004
NM_001364905.1(LRBA):c.5755-18T>C rs186513264 0.00004
NM_005026.5(PIK3CD):c.142-12C>T rs140984297 0.00004
NM_005026.5(PIK3CD):c.1785C>T (p.Phe595=) rs375016049 0.00004
NM_005026.5(PIK3CD):c.2998-18G>A rs554946921 0.00004
NM_005026.5(PIK3CD):c.558G>A (p.Pro186=) rs748818520 0.00004
NM_139276.3(STAT3):c.513C>T (p.Asp171=) rs777828006 0.00004
NM_203447.4(DOCK8):c.1036G>A (p.Val346Ile) rs148994877 0.00004
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) rs775209130 0.00003
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) rs767236871 0.00003
NM_001322934.2(NFKB2):c.853-8C>A rs749266689 0.00003
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_005026.5(PIK3CD):c.1635G>A (p.Ala545=) rs769971778 0.00003
NM_005026.5(PIK3CD):c.849C>T (p.Leu283=) rs376128746 0.00003
NM_139276.3(STAT3):c.1465-16G>A rs189319171 0.00003
NM_139276.3(STAT3):c.2223T>C (p.Gly741=) rs778445506 0.00002
NM_000074.3(CD40LG):c.156+17G>A rs755782893 0.00001
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) rs778398894 0.00001
NM_000074.3(CD40LG):c.409+17C>T rs1195970071 0.00001
NM_005026.5(PIK3CD):c.1710C>T (p.Ser570=) rs200918933 0.00001
NM_005026.5(PIK3CD):c.252C>T (p.Asp84=) rs755377648 0.00001
NM_013314.4(BLNK):c.164-9C>T rs587723501 0.00001
NM_080911.3(UNG):c.339+17A>C rs778193117 0.00001
NM_139276.3(STAT3):c.1123G>A (p.Val375Ile) rs781724933 0.00001
NM_139276.3(STAT3):c.1687G>A (p.Val563Ile) rs749943696 0.00001
NM_139276.3(STAT3):c.1743C>T (p.Asn581=) rs1141144 0.00001
NM_181523.3(PIK3R1):c.1569-18C>T rs557466936 0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843 0.00001
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) rs200672738
NM_000074.3(CD40LG):c.288+20del rs758537361
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)
NM_000626.4(CD79B):c.102G>C (p.Arg34=) rs549278202
NM_000626.4(CD79B):c.549+11del rs750893342
NM_000626.4(CD79B):c.67+17G>C rs373437028
NM_001006658.3(CR2):c.1086A>T (p.Val362=) rs371022418
NM_001006658.3(CR2):c.1296A>T (p.Gly432=) rs201585844
NM_001006658.3(CR2):c.3089-3del rs1274247380
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001322934.2(NFKB2):c.1584+11G>A
NM_001322934.2(NFKB2):c.1584+9dup rs935753166
NM_001322934.2(NFKB2):c.1821A>C (p.Ala607=)
NM_001322934.2(NFKB2):c.502+16dup
NM_001322934.2(NFKB2):c.502+22_502+45del
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001364905.1(LRBA):c.2068-19dup
NM_001364905.1(LRBA):c.217-10del rs766044503
NM_001364905.1(LRBA):c.217-21_217-20dup rs766044503
NM_001364905.1(LRBA):c.217-21dup rs766044503
NM_001364905.1(LRBA):c.2368-11del rs763305183
NM_001364905.1(LRBA):c.3150A>G (p.Val1050=) rs756885717
NM_001364905.1(LRBA):c.4339+15del
NM_001364905.1(LRBA):c.4462-13del rs750589475
NM_001364905.1(LRBA):c.448+12dup rs779183221
NM_001364905.1(LRBA):c.4570-13dup rs145452262
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.5518+13del
NM_001364905.1(LRBA):c.5519-20dup
NM_001364905.1(LRBA):c.5581-14dup rs760075270
NM_001364905.1(LRBA):c.5581-5del rs760075270
NM_001364905.1(LRBA):c.5755-10del
NM_001364905.1(LRBA):c.5755-10dup rs772027194
NM_001364905.1(LRBA):c.6852A>G (p.Gln2284=) rs140538555
NM_001364905.1(LRBA):c.7041+15del rs751929197
NM_001364905.1(LRBA):c.7766G>A (p.Cys2589Tyr)
NM_001364905.1(LRBA):c.8017+20del
NM_001364905.1(LRBA):c.8017+5475_8017+5480del rs56229710
NM_001364905.1(LRBA):c.8018-13dup rs773155703
NM_001364905.1(LRBA):c.895-11dup rs762371000
NM_001783.4(CD79A):c.379+23dup
NM_001783.4(CD79A):c.499-10A>C
NM_001783.4(CD79A):c.499-14A>C
NM_003809.3(TNFSF12):c.499-8del
NM_003809.3(TNFSF12):c.642= (p.Gly214=)
NM_005026.5(PIK3CD):c.1020+15_1020+18dup rs755190125
NM_005026.5(PIK3CD):c.1243-16C>T
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005026.5(PIK3CD):c.1764C>T (p.Pro588=)
NM_005026.5(PIK3CD):c.2085G>A (p.Leu695=)
NM_005026.5(PIK3CD):c.2426+8C>T rs770571023
NM_005026.5(PIK3CD):c.2427-9del
NM_005026.5(PIK3CD):c.2864+19del
NM_005026.5(PIK3CD):c.2998-8G>T rs546505883
NM_005026.5(PIK3CD):c.781-8del rs2100866754
NM_012092.4(ICOS):c.395-10dup rs750240095
NM_012092.4(ICOS):c.501+6C>T rs4264550
NM_012452.3(TNFRSF13B):c.*86_*88del rs150068036
NM_012452.3(TNFRSF13B):c.199+12G>A
NM_012452.3(TNFRSF13B):c.560AGA[1] (p.Lys188del) rs376630110
NM_013314.4(BLNK):c.1096-17del rs201454460
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.171T>C (p.Pro57=) rs727852
NM_013314.4(BLNK):c.48-5dup
NM_013314.4(BLNK):c.608-22CA[5] rs200821324
NM_013314.4(BLNK):c.775-12del
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu) rs200178386
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr) rs111903752
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr) rs199718215
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met) rs1555903974
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_052945.4(TNFRSF13C):c.191_192delinsTT (p.Gly64Val) rs1556157858
NM_052945.4(TNFRSF13C):c.368-13C>G rs201892760
NM_052945.4(TNFRSF13C):c.368-13C>T rs201892760
NM_080911.3(UNG):c.579T>G (p.Phe193Leu)
NM_080911.3(UNG):c.801+24_801+27del rs144108564
NM_080911.3(UNG):c.801+27dup rs144108564
NM_139276.3(STAT3):c.1050-13dup
NM_139276.3(STAT3):c.1191A>G (p.Glu397=)
NM_139276.3(STAT3):c.1200C>T (p.Asn400=)
NM_139276.3(STAT3):c.1335G>A (p.Val445=)
NM_139276.3(STAT3):c.1515C>T (p.Ala505=)
NM_139276.3(STAT3):c.1597T>C (p.Leu533=)
NM_139276.3(STAT3):c.1601-10dup rs3830585
NM_139276.3(STAT3):c.2145-12dup
NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu)
NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr)
NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala)
NM_139276.3(STAT3):c.373-6dup
NM_139276.3(STAT3):c.48G>A (p.Glu16=)
NM_139276.3(STAT3):c.551-137_551-18del rs1567722156
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[4] rs768181932
NM_139276.3(STAT3):c.666G>A (p.Ala222=)
NM_139276.3(STAT3):c.708G>A (p.Thr236=)
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.916+9T>G
NM_203447.4(DOCK8):c.2109+11del rs550211916
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.3234+15C>A rs79462548
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.3234+21dup rs3831174
NM_203447.4(DOCK8):c.3700+19del rs1229243384
NM_203447.4(DOCK8):c.404+16del rs727505303
NM_203447.4(DOCK8):c.4338+12A>G
NM_203447.4(DOCK8):c.53+14C>G rs756810591
NM_203447.4(DOCK8):c.53+14del rs749863710
NM_203447.4(DOCK8):c.5581-10dup
NM_203447.4(DOCK8):c.5581-18G>C rs10814952
NM_203447.4(DOCK8):c.5581-5del rs764924630
NM_203447.4(DOCK8):c.5962-13_5962-9del
NM_203447.4(DOCK8):c.5962-15_5962-9del rs35071801
NM_203447.4(DOCK8):c.5962-16_5962-9del rs35071801
NM_203447.4(DOCK8):c.699T>C (p.Asn233=) rs2039045

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