ClinVar Miner

List of variants studied for B cell deficiency by OMIM

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 221
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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_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro) rs1381682599 0.00004
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338 0.00003
NC_000014.9:g.105854405C>T rs376256147 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_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) rs746141726 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_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491 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_203447.4(DOCK8):c.3494del (p.Thr1165fs) rs113944762 0.00001
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs) rs762990689 0.00001
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 26-BP INS, NT2019
CD40LG, 10-BP DEL
CD40LG, THR211ASP
IGHM, 75-KB DEL
NC_000004.10:g.152111739_152222852del
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
NC_000009.12:g.139481_407477del
NC_000009.12:g.311735_398140del
NC_000009.12:g.364057_404510dup
NC_000014.9:g.105854468A>C rs267606871
NC_000014.9:g.105855107C>T rs281865422
NC_000014.9:g.105855623_105855624del
NC_000023.10:g.19667630_19886572del
NG_007280.1:g.5145_5146insAluAluYb8inv
NM_000061.3(BTK):c.-31+5G>A rs1131691354
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs) rs2147429013
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) rs128621198
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.141+3_141+4del rs864321661
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.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
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.1631+1G>T rs1569291215
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.1741T>C (p.Trp581Arg) rs128621205
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) rs128621208
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.1955T>C (p.Leu652Pro) rs128622212
NM_000061.3(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
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.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
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.718G>T (p.Glu240Ter) rs128621191
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.839+1G>A rs1569292649
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.894+191_1908+163del
NM_000061.3(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.3(BTK):c.974+1del rs2147430166
NM_000061.3(BTK):c.97A>C (p.Thr33Pro) rs128620189
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189dup (p.Val64fs) rs193922134
NM_000074.3(CD40LG):c.349_409+2del rs2148552900
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.412_419del
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000565.4(IL6R):c.548del (p.Gly183fs) rs1689501445
NM_000565.4(IL6R):c.836T>A (p.Ile279Asn) rs1689606931
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.1225+1G>C rs398122864
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs) rs1565638431
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001250.6(CD40):c.247T>C (p.Cys83Arg) rs28931586
NM_001250.6(CD40):c.257-2A>T rs1568906348
NM_001250.6(CD40):c.408A>T (p.Thr136=) rs2145595063
NM_001250.6(CD40):c.95TAA[1] (p.Ile33del) rs1568905451
NM_001282933.2(ZNF341):c.1083del (p.Lys362fs) rs1568945329
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) rs982121798
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) rs376598954
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) rs1568940507
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.2611C>T (p.Gln871Ter) rs2061279365
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
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.379+1G>A rs1555843601
NM_001783.4(CD79A):c.380-2A>G rs1600631593
NM_002184.4(IL6ST):c.1210A>T (p.Asn404Tyr) rs1580809257
NM_002184.4(IL6ST):c.1493C>T (p.Pro498Leu) rs1580801731
NM_002184.4(IL6ST):c.1552+3A>C rs1580801563
NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer) rs1750932254
NM_002184.4(IL6ST):c.2155dup (p.Ile719fs) rs2111587824
NM_002184.4(IL6ST):c.2277T>G (p.Tyr759Ter) rs2111585826
NM_002184.4(IL6ST):c.2277_2281dup (p.Thr761fs) rs2111585708
NM_002184.4(IL6ST):c.560_571del (p.Ser187_Tyr190del) rs2111774223
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_003153.5(STAT6):c.1114G>A (p.Glu372Lys)
NM_003153.5(STAT6):c.1144G>C (p.Glu382Gln)
NM_003153.5(STAT6):c.1255G>C (p.Asp419His)
NM_003153.5(STAT6):c.1255G>T (p.Asp419Tyr)
NM_003153.5(STAT6):c.1256A>G (p.Asp419Gly)
NM_003153.5(STAT6):c.1555G>C (p.Asp519His)
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.1539_1543del (p.His513fs) rs1578811073
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.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter) rs2149181831
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_004356.4(CD81):c.561+1G>A rs587776775
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1246T>C (p.Cys416Arg) rs587777390
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_006060.5(IKZF1):c.161-8388_589+2308del
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.551G>A (p.Arg184Gln) rs869312885
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro) rs1170038377
NM_012092.4(ICOS):c.59-594_501+93del
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
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_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe) rs387906329
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.22_40del (p.Arg8fs) rs387906328
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020661.4(AICDA):c.317T>C (p.Leu106Pro) rs104894321
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.452T>C (p.Phe151Ser) rs104894327
NM_020661.4(AICDA):c.70C>T (p.Arg24Trp) rs104894324
NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
NM_080911.3(UNG):c.392del (p.Pro131fs)
NM_080911.3(UNG):c.428_429del (p.Ile143fs)
NM_080911.3(UNG):c.572_573del (p.Glu191fs)
NM_080911.3(UNG):c.752T>C (p.Phe251Ser) rs104894380
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>T (p.Arg382Leu) rs113994136
NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile) rs397514766
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT
NM_181523.3(PIK3R1):c.1300-1G>C rs1554051033
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.893G>A (p.Trp298Ter) rs397509384
NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn) rs1553319504
NM_203447.3(DOCK8):c.1126-395_2971-2751del
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg) rs112321280
NM_203447.4(DOCK8):c.2206-2A>G
NM_203447.4(DOCK8):c.3504_3505insTGGCTGCT (p.Ala1169fs) rs886037645
NM_203447.4(DOCK8):c.5287C>T (p.Arg1763Ter)
NM_203447.4(DOCK8):c.5309_5310del (p.Leu1770fs)
TCF3, EX5-11 DEL

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