ClinVar Miner

List of variants reported as likely pathogenic for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
Download table as spreadsheet
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_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
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_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_203447.4(DOCK8):c.3234+2T>C rs756871628 0.00010
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter) rs193922703 0.00003
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln) rs886923939 0.00002
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292 0.00001
NM_001364905.1(LRBA):c.5646-2A>T rs1297757024 0.00001
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829 0.00001
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020661.4(AICDA):c.544-2A>G rs772388034 0.00001
NM_203447.4(DOCK8):c.1680-2A>G rs749633690 0.00001
GRCh37/hg19 4q24(chr4:102851823-104641864)
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000009.11:g.(?_271607)_(304724_?)dup
NC_000009.11:g.(?_271607)_(312186_?)dup
NC_000009.11:g.(?_271607)_(328191_?)dup
NC_000009.11:g.(?_271607)_(336738_?)dup
NC_000009.11:g.(?_271607)_(382705_?)dup
NC_000009.11:g.(?_271607)_(399279_?)dup
NC_000009.11:g.(?_271607)_(418227_?)dup
NC_000009.11:g.(?_271627)_(382685_?)dup
NC_000009.11:g.(?_271627)_(399259_?)dup
NC_000009.11:g.(?_325651)_(382705_?)dup
NC_000009.11:g.(?_332378)_(340341_?)dup
NC_000009.11:g.(?_334205)_(336738_?)del
NC_000009.11:g.(?_367998)_(418227_?)dup
NC_000009.11:g.(?_371408)_(428516_?)dup
NC_000009.11:g.(?_404898)_(407089_?)dup
NC_000009.12:g.(333421_334903)del
NC_000009.12:g.(?_286441)_(289601_?)del
NC_000009.12:g.(?_304561)_(399279_?)dup
NC_000009.12:g.(?_334205)_(340341_?)dup
NC_000014.9:g.105855132dup rs2092930640
NC_000014.9:g.105856013G>T rs2142904095
NC_000017.10:g.(?_16842841)_(16855917_?)del
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NM_000061.3(BTK):c.119_120dup (p.Glu41fs)
NM_000061.3(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) rs2147427580
NM_000061.3(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)
NM_000061.3(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) rs1926380106
NM_000061.3(BTK):c.1716dup (p.Lys573fs) rs2147424879
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
NM_000061.3(BTK):c.233del (p.Gln78fs) rs2147447513
NM_000061.3(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) rs782519139
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
NM_000061.3(BTK):c.588+1G>T rs1569293252
NM_000061.3(BTK):c.588+2T>A rs1555978777
NM_000061.3(BTK):c.777-1G>A rs1603007942
NM_000061.3(BTK):c.777-2A>G rs193922129
NM_000061.3(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.3(BTK):c.806del (p.Val269fs) rs1926614700
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
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.895-2A>G rs193922132
NM_000061.3(BTK):c.904G>A (p.Gly302Arg)
NM_000061.3(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) rs764859619
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg) rs2122686345
NM_001282933.2(ZNF341):c.98C>T (p.Pro33Leu)
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) rs2061278560
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001364905.1(LRBA):c.1924+2T>A rs1730552437
NM_001364905.1(LRBA):c.216+1G>C
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.4158+1G>C
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.4239del (p.Val1414fs) rs2126905499
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5645+1G>C
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.5921+1G>A
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6331-2A>G rs2152104087
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.7363-1G>T
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs) rs1580974401
NM_001364905.1(LRBA):c.7850-1G>A rs1729842757
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.499-1G>A
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2671del (p.Ala891fs) rs1728635624
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4(NFKB1):c.988G>A (p.Val330Met) rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys) rs28730670
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005026.5(PIK3CD):c.371G>A (p.Gly124Asp)
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
NM_006060.6(IKZF1):c.499C>T (p.His167Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_006846.4(SPINK5):c.2264del (p.Asn755fs)
NM_006846.4(SPINK5):c.715dup (p.Cys239fs)
NM_006846.4(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_012092.4(ICOS):c.136_139del (p.Asp46fs)
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_013314.4(BLNK):c.113+2T>G rs2134092983
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_013314.4(BLNK):c.747-2A>G
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter) rs1227905250
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter) rs2136431608
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu) rs2136433359
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020661.4(AICDA):c.8+1G>C
NM_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)
NM_080911.3(UNG):c.132+1G>A
NM_080911.3(UNG):c.133-2A>G
NM_080911.3(UNG):c.623-2A>G rs2042193330
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) rs193922716
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) rs2144773624
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu)
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) rs2144697778
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) rs193922720
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg)
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val)
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu)
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) rs2144683205
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.2114A>G (p.Tyr705Cys)
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) rs2144622906
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) rs1131691937
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) rs1598381121
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) rs193922722
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys)
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys) rs1555566945
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) rs2144832509
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_181523.3(PIK3R1):c.1300-2A>G rs1403833564
NM_181523.3(PIK3R1):c.1300-5_1320del rs2112261986
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
NM_181523.3(PIK3R1):c.916+2T>C
NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)
NM_182972.3(IRF2BP2):c.217_244del (p.Pro73fs)
NM_182972.3(IRF2BP2):c.314_324del (p.Glu105fs)
NM_203447.4(DOCK8):c.1868+1G>A
NM_203447.4(DOCK8):c.2007+2T>G rs2131215770
NM_203447.4(DOCK8):c.2779-2A>C rs776399238
NM_203447.4(DOCK8):c.3530+1G>A rs1564025732
NM_203447.4(DOCK8):c.3670_3671insTCAAATTTTGG (p.Asp1224fs) rs2131602318
NM_203447.4(DOCK8):c.3841-1G>T rs1486452597
NM_203447.4(DOCK8):c.4024-2A>G
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_203447.4(DOCK8):c.4626+1G>A
NM_203447.4(DOCK8):c.4626+76A>G
NM_203447.4(DOCK8):c.5223+1del rs2131795370
NM_203447.4(DOCK8):c.53+1G>A rs2046707580
NM_203447.4(DOCK8):c.5311dup (p.Thr1771fs)
NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)
NM_203447.4(DOCK8):c.5490+2T>C
NM_203447.4(DOCK8):c.560_561insAGCGA (p.Asp187fs) rs2130697082
NM_203447.4(DOCK8):c.741+2T>C
NM_203447.4(DOCK8):c.882dup (p.Glu295fs) rs1554668061

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