ClinVar Miner

List of variants studied for immune system disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_144687.4(NLRP12):c.2394G>A (p.Gln798=) rs4806773 0.85135
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_000051.4(ATM):c.3078-77C>T rs664677 0.65111
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_003978.5(PSTPIP1):c.838+145A>G rs4078354 0.59602
NM_144687.4(NLRP12):c.-12C>T rs4539722 0.44990
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_001375808.2(LPIN2):c.1168+44T>C rs3826637 0.31167
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val) rs34436714 0.22387
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=) rs1050851 0.15413
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247 0.14073
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_001430.5(EPAS1):c.780-15T>A rs17035079 0.06797
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543 0.05538
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853 0.05268
NC_000014.9:g.105855041A>G rs10287 0.05231
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_152866.3(MS4A1):c.216C>T (p.Ile72=) rs2070770 0.05151
NC_000014.9:g.105855988G>C rs113762053 0.04825
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065 0.04391
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_003978.5(PSTPIP1):c.915C>T (p.Cys305=) rs11858480 0.04154
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_144687.4(NLRP12):c.289+18C>T rs116129563 0.03610
NM_006060.6(IKZF1):c.161-8328C>A rs76112582 0.03410
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_001375808.2(LPIN2):c.1456+29A>G rs16944068 0.03261
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_003978.5(PSTPIP1):c.137+28C>T rs79438763 0.02640
NM_182972.3(IRF2BP2):c.75C>T (p.Pro25=) rs76362154 0.02638
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117 0.02613
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
NM_001364905.1(LRBA):c.6781-3C>T rs58873298 0.02593
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_001242.5(CD27):c.269-9T>C rs11830902 0.02521
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=) rs17027154 0.02479
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_001364905.1(LRBA):c.7630+10G>C rs57901153 0.02351
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_012092.4(ICOS):c.150A>G (p.Gln50=) rs55972840 0.02252
NM_012092.4(ICOS):c.501+7G>A rs57149344 0.02252
NM_182972.3(IRF2BP2):c.352C>T (p.Pro118Ser) rs148187914 0.02203
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02186
NM_144687.4(NLRP12):c.1347C>G (p.Ala449=) rs111234757 0.02160
NM_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351 0.02129
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845 0.02120
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_003978.5(PSTPIP1):c.838+40T>C rs77968440 0.01919
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_003978.5(PSTPIP1):c.*51G>A rs117378779 0.01876
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala) rs4915154 0.01733
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_003978.5(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327 0.01363
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225 0.01254
NM_001282426.2(PIK3CG):c.1565A>G (p.Asn522Ser) rs61749915 0.01251
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_144687.4(NLRP12):c.609C>T (p.Asp203=) rs34854934 0.01168
NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836 0.01159
NM_144687.4(NLRP12):c.2784C>T (p.Ala928=) rs104895569 0.01141
NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) rs41278571 0.01086
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469 0.01075
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
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_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln) rs79884502 0.00917
NM_020661.4(AICDA):c.210A>G (p.Leu70=) rs104894984 0.00916
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_144687.4(NLRP12):c.2927+17G>A rs111310321 0.00864
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp) rs34708681 0.00859
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=) rs61741557 0.00815
NM_144687.4(NLRP12):c.969T>G (p.Leu323=) rs142063194 0.00814
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg) rs35401786 0.00803
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn) rs34330210 0.00799
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001364905.1(LRBA):c.5171+20G>A rs116225517 0.00791
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_005429.5(VEGFC):c.140A>T (p.Glu47Val) rs55728985 0.00720
NM_144687.4(NLRP12):c.2755C>T (p.Arg919Trp) rs61741349 0.00716
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=) rs61741347 0.00692
NM_003978.5(PSTPIP1):c.137+20del rs199952167 0.00688
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_144687.4(NLRP12):c.2414+16C>T rs75073147 0.00604
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) rs151061939 0.00535
NM_003978.5(PSTPIP1):c.212+12C>T rs3812914 0.00534
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_003978.5(PSTPIP1):c.354+20C>T rs184279306 0.00523
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_003978.5(PSTPIP1):c.1098G>A (p.Ala366=) rs35538044 0.00501
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=) rs201582038 0.00495
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
NM_001322934.2(NFKB2):c.40G>A (p.Glu14Lys) rs45581936 0.00433
NM_006785.4(MALT1):c.1401-16C>T rs35049034 0.00432
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_006904.7(PRKDC):c.6067T>C (p.Ser2023Pro) rs56042895 0.00371
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_002185.5(IL7R):c.132C>T (p.Ser44=) rs11567704 0.00357
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_012092.4(ICOS):c.58+9T>G rs140049646 0.00348
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_003978.5(PSTPIP1):c.*38T>C rs201535027 0.00346
NM_020661.4(AICDA):c.267C>T (p.Asp89=) rs74334270 0.00326
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_144687.4(NLRP12):c.960G>A (p.Thr320=) rs77625808 0.00311
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
NM_003978.5(PSTPIP1):c.652C>T (p.Leu218=) rs35677716 0.00279
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_006254.4(PRKCD):c.1260+6C>T rs180706867 0.00270
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_003978.5(PSTPIP1):c.147G>A (p.Ala49=) rs34618738 0.00264
NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=) rs373828157 0.00260
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_144687.4(NLRP12):c.2927+14A>G rs199476247 0.00247
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_002838.5(PTPRC):c.3402C>T (p.Pro1134=) rs61757805 0.00238
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_001322934.2(NFKB2):c.1962C>T (p.Val654=) rs201623844 0.00221
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_144687.4(NLRP12):c.1352G>A (p.Arg451His) rs76085152 0.00188
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_003978.5(PSTPIP1):c.985+19G>T rs192912170 0.00163
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00161
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=) rs567541615 0.00147
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=) rs140769141 0.00142
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697 0.00125
NM_003978.5(PSTPIP1):c.247+20G>A rs188931087 0.00114
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_144687.4(NLRP12):c.2386del (p.His796fs) rs539741111 0.00102
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser) rs150671525 0.00069
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_002838.5(PTPRC):c.982A>G (p.Ile328Val) rs41314039 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_144687.4(NLRP12):c.559G>A (p.Val187Met) rs147355465 0.00042
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln) rs373954247 0.00040
NM_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_144687.4(NLRP12):c.1495A>G (p.Ile499Val) rs146903616 0.00038
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala) rs143973442 0.00034
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=) rs200796501 0.00027
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_005026.5(PIK3CD):c.3024G>A (p.Glu1008=) rs146664456 0.00026
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val) rs370965231 0.00022
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile) rs200996095 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys) rs201241894 0.00019
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_001322934.2(NFKB2):c.243+20G>C rs371813362 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_144687.4(NLRP12):c.2895G>A (p.Leu965=) rs369220717 0.00013
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val) rs146626926 0.00013
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_003978.5(PSTPIP1):c.930-14C>T rs200876675 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 0.00008
NM_003978.5(PSTPIP1):c.-124C>T rs760819203 0.00008
NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=) rs148506660 0.00008
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=) rs746401908 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_003978.5(PSTPIP1):c.838+16C>T rs781423711 0.00006
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met) rs370932461 0.00006
NM_014140.4(SMARCAL1):c.1469G>A (p.Arg490His) rs529024384 0.00006
NM_144687.4(NLRP12):c.1756C>T (p.His586Tyr) rs772704000 0.00006
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln) rs373285006 0.00006
NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr) rs151187420 0.00006
NM_182972.3(IRF2BP2):c.1180A>C (p.Thr394Pro) rs138385624 0.00006
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=) rs190586278 0.00005
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_003978.5(PSTPIP1):c.-123G>A rs771172891 0.00005
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr) rs771232034 0.00005
NM_144687.4(NLRP12):c.1951T>C (p.Ser651Pro) rs370478544 0.00005
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val) rs201354221 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_003978.5(PSTPIP1):c.-120G>A rs759583926 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) rs202135883 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_144687.4(NLRP12):c.104C>T (p.Ala35Val) rs373357561 0.00004
NM_144687.4(NLRP12):c.1102G>A (p.Ala368Thr) rs541068679 0.00004
NM_144687.4(NLRP12):c.1855G>A (p.Glu619Lys) rs139082917 0.00004
NC_000014.9:g.105854900G>T rs373184157 0.00003
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=) rs763986763 0.00003
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr) rs758911910 0.00002
NM_003978.5(PSTPIP1):c.838+9C>T rs778120164 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_144687.4(NLRP12):c.78G>A (p.Lys26=) rs148263031 0.00002
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile) rs1486044509 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=) rs766141606 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp) rs375063664 0.00001
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=) rs868533109 0.00001
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys) rs1283948312 0.00001
NM_003978.5(PSTPIP1):c.929+18G>A rs773172907 0.00001
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_144687.4(NLRP12):c.1386C>T (p.Cys462=) rs1369275354 0.00001
NM_144687.4(NLRP12):c.289+14G>A rs777899039 0.00001
NM_144687.4(NLRP12):c.448T>A (p.Cys150Ser) rs746324074 0.00001
NM_144687.4(NLRP12):c.653C>T (p.Ala218Val) rs749659859 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144687.4(NLRP12):c.964C>G (p.Leu322Val) rs745451806 0.00001
NC_000014.9:g.105855203G>A
NC_000014.9:g.105856156C>T rs201981439
NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
NM_000243.2(MEFV):c.[1437C>G;501G>C]
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001159699.2(FHL1):c.737-8C>G
NM_001242.5(CD27):c.515G>A (p.Arg172Gln)
NM_001250.6(CD40):c.646+27G>T
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) rs765953887
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_002838.5(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003978.5(PSTPIP1):c.*156_*158del rs147238110
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu) rs755840747
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_003978.5(PSTPIP1):c.137+47G>C rs3812911
NM_003978.5(PSTPIP1):c.212+1G>A rs2152679042
NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe) rs2152678700
NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=) rs1141041
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer) rs1596123288
NM_003978.5(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.5(PSTPIP1):c.838+45C>G rs116895455
NM_003978.5(PSTPIP1):c.929+8C>T
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006060.6(IKZF1):c.825G>A (p.Lys275=) rs1064796324
NM_006060.6(IKZF1):c.863T>G (p.Leu288Arg)
NM_006254.4(PRKCD):c.703G>A (p.Val235Ile) rs782573482
NM_006785.4(MALT1):c.1912-5del rs199915155
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.346-5C>T
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_012092.4(ICOS):c.395-19A>G
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
NM_014140.4(SMARCAL1):c.1334+15T>A
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile) rs150894862
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_019594.4(LRRC8A):c.-2C>T
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.97G>A (p.Val33Met) rs116760479
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr) rs1600706886
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2469C>T (p.Leu823=) rs12460528
NM_144687.4(NLRP12):c.2602C>T (p.Leu868Phe) rs1600683649
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_144687.4(NLRP12):c.617G>A (p.Arg206His) rs139461508
NM_182972.3(IRF2BP2):c.-4G>C
NM_182972.3(IRF2BP2):c.281AGC[6] (p.Gln98dup) rs371994015
NM_182972.3(IRF2BP2):c.928C>T (p.Leu310=) rs1672238574

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