ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
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_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_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
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_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338 0.00003
NC_000014.9:g.105854405C>T rs376256147 0.00002
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_006979.3(SLC39A7):c.1114C>T (p.Gln372Ter) rs201790479 0.00002
NM_006979.3(SLC39A7):c.568C>G (p.Pro190Ala) rs563866464 0.00002
NM_012452.3(TNFRSF13B):c.62-1G>A rs759649059 0.00002
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_006979.3(SLC39A7):c.1087G>A (p.Glu363Lys) rs771311186 0.00001
NM_006979.3(SLC39A7):c.1184C>T (p.Thr395Ile) rs1416107120 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_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491 0.00001
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) rs1230037871 0.00001
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 26-BP INS, NT2019
GRCh37/hg19 4q31.3(chr4:151441408-151719830)
GRCh37/hg19 4q31.3(chr4:151622552-151657380)
IGHM, 75-KB DEL
NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000004.10:g.152111739_152222852del
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_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
NC_000010.11:g.(?_96271332)_(96271418_?)del
NC_000014.9:g.105854468A>C rs267606871
NC_000014.9:g.105855107C>T rs281865422
NC_000014.9:g.105855623_105855624del
NC_000014.9:g.105856087G>A rs2142904392
NC_000017.10:g.(?_16875309)_(16875389_?)del
NC_000019.10:g.41878996_41879009del
NC_000023.10:g.19667630_19886572del
NM_000061.3(BTK):c.-31+5G>A rs1131691354
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.3(BTK):c.1004T>A (p.Val335Asp) rs1569292214
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs) rs2147429013
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) rs782429199
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) rs128621198
NM_000061.3(BTK):c.1257del (p.Lys420fs) rs2147428293
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter) rs2147448164
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter) rs128621199
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu) rs128620184
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.141+3_141+4del rs864321661
NM_000061.3(BTK):c.141+3_141+6del rs1555980866
NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter) rs41310709
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.3(BTK):c.1526T>C (p.Met509Thr) rs1569291644
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1567-2A>T rs1555977598
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1589del (p.Asn530fs) rs2147425836
NM_000061.3(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.3(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.3(BTK):c.1631+1G>T rs1569291215
NM_000061.3(BTK):c.1632-2A>T rs886039555
NM_000061.3(BTK):c.164dup (p.Ile56fs) rs2147447605
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) rs1603019594
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu) rs2147424186
NM_000061.3(BTK):c.1784dup (p.Met596fs) rs1603001771
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn) rs2147424169
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.3(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer) rs2147423959
NM_000061.3(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.3(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
NM_000061.3(BTK):c.280del (p.Ile94fs)
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) rs1927036604
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.310-2A>G rs864321663
NM_000061.3(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.3(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.588+2T>C
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.3(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.3(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.829G>T (p.Glu277Ter) rs868983143
NM_000061.3(BTK):c.839+1G>A rs1569292649
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.842G>A (p.Trp281Ter) rs2147431031
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.894+191_1908+163del
NM_000061.3(BTK):c.895-2del rs2147430256
NM_000061.3(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.3(BTK):c.953C>T (p.Ser318Phe) rs1555978197
NM_000061.3(BTK):c.974+1del rs2147430166
NM_000061.3(BTK):c.97A>C (p.Thr33Pro) rs128620189
NM_000061.3(BTK):c.991dup (p.Ile331fs) rs2147429948
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) rs1590715754
NM_000626.4(CD79B):c.238C>T (p.Gln80Ter) rs267606711
NM_000626.4(CD79B):c.409G>A (p.Gly137Ser) rs121912424
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.2297G>A (p.Trp766Ter) rs398122863
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.462T>A (p.Cys154Ter) rs1572952530
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_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs) rs1565638431
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
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.175G>T (p.Glu59Ter) rs199469664
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.2032C>T (p.Gln678Ter) rs727503780
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.345dup (p.Ala116fs)
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.4261A>G (p.Ser1421Gly) rs2126905382
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.534del (p.Asp179fs) rs2149508258
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.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs) rs1581401865
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.8107_8110del (p.Ser2703fs)
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_001770.5(CD19):c.1653_*9delins23
NM_001770.6(CD19):c.1386_1387del (p.Asn463fs) rs1393707607
NM_001770.6(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.6(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.6(CD19):c.947-1G>T rs1567506566
NM_001770.6(CD19):c.971dup (p.Arg325fs) rs2152230798
NM_001783.4(CD79A):c.198G>A (p.Trp66Ter) rs1568801716
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.380-2A>G rs1600631593
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter) rs2095916574
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.693_694del (p.Leu232fs) rs773877800
NM_003200.5(TCF3):c.808C>T (p.Gln270Ter) rs2146131822
NM_003998.4(NFKB1):c.1012del (p.Ser338fs) rs2149192665
NM_003998.4(NFKB1):c.139del (p.Ile47fs) rs2149123423
NM_003998.4(NFKB1):c.1423del (p.Ala475fs) rs1578809101
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs) rs1578811073
NM_003998.4(NFKB1):c.159+1G>A rs1741461840
NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys) rs1040399901
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) rs1578771197
NM_003998.4(NFKB1):c.407+2T>G rs2149168346
NM_003998.4(NFKB1):c.418_427del (p.Leu140fs) rs1724867456
NM_003998.4(NFKB1):c.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter) rs2149181831
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter) rs1724875502
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.830dup (p.Lys278fs) rs1578790573
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) rs1578793298
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004356.4(CD81):c.561+1G>A rs587776775
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
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_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser) rs374333820
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) rs770551610
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) rs770551610
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) rs530073586
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) rs869312885
NM_006060.6(IKZF1):c.584A>G (p.His195Arg) rs1131690788
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro) rs1170038377
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.59-594_501+93del
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_013314.4(BLNK):c.47+3A>T rs2134166251
NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp) rs1553721236
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
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.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.1425+2_1425+3del rs1554051067
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_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn) rs1553319504
NM_182972.3(IRF2BP2):c.314_324dup (p.Ala110fs)
Single allele
TCF3, EX5-11 DEL

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