List of variants reported as likely pathogenic for agammaglobulinemia

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 151

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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_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_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)	rs143027621	0.00012
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_001006658.3(CR2):c.2625C>A (p.Cys875Ter)	rs751868289	0.00003
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
GRCh37/hg19 4q24(chr4:102851823-104641864)
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000014.9:g.105855132dup	rs2092930640
NC_000014.9:g.105856013G>T	rs2142904095
NC_000017.10:g.(?_16842841)_(16855917_?)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_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_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_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_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)
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)

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