ClinVar Miner

List of variants reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP
NC_000004.12:g.(?_150683531)_(151014662_?)dup
NC_000004.12:g.(?_150761763)_(151014662_?)dup
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.11:g.(?_102395940)_(102402396_?)dup
NC_000022.11:g.(?_23574947)_(23580210_?)del
NC_000022.11:g.(?_23574947)_(23580210_?)dup
NC_000022.11:g.(?_41301335)_(42070317_?)del
NM_000061.2(BTK):c.-105G>T rs1034801451
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.1475G>A (p.Arg492His) rs782338603
NM_000061.2(BTK):c.391+143dupA rs193922127
NM_000061.2(BTK):c.520+15C>T rs782697907
NM_000061.2(BTK):c.777-3C>G rs193922130
NM_000061.2(BTK):c.852A>G (p.Lys284=) rs1057515724
NM_000626.3(CD79B):c.250G>A (p.Glu84Lys)
NM_000626.3(CD79B):c.323C>T (p.Thr108Ile)
NM_000626.3(CD79B):c.422G>A (p.Arg141Gln)
NM_000626.3(CD79B):c.592-6C>G rs372665115
NM_001006658.2(CR2):c.1180A>C (p.Asn394His)
NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala)
NM_001006658.2(CR2):c.1390C>T (p.Pro464Ser) rs41313740
NM_001006658.2(CR2):c.1597A>T (p.Ile533Phe) rs762951469
NM_001006658.2(CR2):c.1659_1660insG (p.Tyr554Valfs)
NM_001006658.2(CR2):c.1931G>A (p.Cys644Tyr) rs149972318
NM_001006658.2(CR2):c.1962A>G (p.Ile654Met)
NM_001006658.2(CR2):c.2030C>T (p.Thr677Met)
NM_001006658.2(CR2):c.2228C>T (p.Ser743Phe)
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.2506C>T (p.Pro836Ser) rs147263584
NM_001006658.2(CR2):c.2656G>A (p.Val886Met)
NM_001006658.2(CR2):c.2738C>T (p.Pro913Leu) rs772503117
NM_001006658.2(CR2):c.2783G>A (p.Arg928Gln)
NM_001006658.2(CR2):c.2863C>T (p.His955Tyr) rs1329384177
NM_001006658.2(CR2):c.2920C>A (p.Pro974Thr)
NM_001006658.2(CR2):c.3047C>T (p.Ser1016Leu)
NM_001006658.2(CR2):c.3100C>G (p.Pro1034Ala)
NM_001006658.2(CR2):c.3187C>T (p.Arg1063Cys) rs145499318
NM_001006658.2(CR2):c.3238C>T (p.Arg1080Ter)
NM_001006658.2(CR2):c.3251C>A (p.Ser1084Tyr) rs142273168
NM_001006658.2(CR2):c.389T>C (p.Val130Ala) rs543886209
NM_001006658.2(CR2):c.424C>T (p.Arg142Ter) rs201017642
NM_001006658.2(CR2):c.452C>T (p.Pro151Leu)
NM_001006658.2(CR2):c.52G>A (p.Val18Ile) rs892246082
NM_001006658.2(CR2):c.605A>C (p.Lys202Thr) rs893377104
NM_001006658.2(CR2):c.622C>T (p.Pro208Ser)
NM_001006658.2(CR2):c.668A>G (p.Asn223Ser)
NM_001006658.2(CR2):c.721_722delTT (p.Phe241Leufs)
NM_001006658.2(CR2):c.728A>T (p.Asp243Val)
NM_001006658.2(CR2):c.784G>T (p.Gly262Ter)
NM_001006658.2(CR2):c.7G>T (p.Ala3Ser)
NM_001039933.2(CD79B):c.417A>G (p.Thr139=)
NM_001077494.3(NFKB2):c.1097G>A (p.Gly366Asp) rs747854969
NM_001077494.3(NFKB2):c.1262C>T (p.Ala421Val)
NM_001077494.3(NFKB2):c.1285A>T (p.Thr429Ser) rs1405716353
NM_001077494.3(NFKB2):c.1736G>A (p.Arg579His) rs200227171
NM_001077494.3(NFKB2):c.1892G>T (p.Arg631Leu)
NM_001077494.3(NFKB2):c.2001G>A (p.Ala667=)
NM_001077494.3(NFKB2):c.2333T>C (p.Leu778Pro)
NM_001077494.3(NFKB2):c.2350G>A (p.Gly784Arg)
NM_001077494.3(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206
NM_001077494.3(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=)
NM_001136139.4(TCF3):c.229G>A (p.Glu77Lys)
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro)
NM_001770.5:c.1635delA
NM_001783.3(CD79A):c.224C>A (p.Thr75Lys)
NM_001783.3(CD79A):c.258C>A (p.Asp86Glu) rs587778166
NM_001783.3(CD79A):c.269C>T (p.Thr90Met)
NM_001783.3(CD79A):c.371G>A (p.Arg124His) rs144367487
NM_001783.3(CD79A):c.419C>T (p.Thr140Ile)
NM_001783.3(CD79A):c.502C>G (p.Arg168Gly)
NM_001783.3(CD79A):c.593T>C (p.Met198Thr) rs532288711
NM_003809.2(TNFSF12):c.177G>C (p.Glu59Asp)
NM_003809.2(TNFSF12):c.205_207dup (p.Ser69_Glu70insSer)
NM_003809.2(TNFSF12):c.43G>A (p.Glu15Lys) rs768061768
NM_003809.2(TNFSF12):c.679C>T (p.Arg227Cys)
NM_004356.3(CD81):c.182-5G>A
NM_005026.3(PIK3CD):c.1189G>A (p.Val397Met)
NM_005026.3(PIK3CD):c.1574A>G (p.Glu525Gly)
NM_005026.4(PIK3CD):c.1002C>G (p.Asn334Lys)
NM_005026.4(PIK3CD):c.1065C>T (p.Cys355=) rs770064539
NM_005026.4(PIK3CD):c.1319A>G (p.Tyr440Cys)
NM_005026.4(PIK3CD):c.1379G>A (p.Arg460His) rs373779625
NM_005026.4(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223
NM_005026.4(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130
NM_005026.4(PIK3CD):c.1802G>A (p.Arg601Gln)
NM_005026.4(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302
NM_005026.4(PIK3CD):c.2311G>A (p.Gly771Ser)
NM_005026.4(PIK3CD):c.236_237del (p.Gln79Profs) rs1553168726
NM_005026.4(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.4(PIK3CD):c.780+3G>A
NM_005026.4(PIK3CD):c.854T>C (p.Met285Thr) rs557471275
NM_006726.4(LRBA):c.1109C>G (p.Ala370Gly) rs1391144269
NM_006726.4(LRBA):c.1144T>A (p.Leu382Met)
NM_006726.4(LRBA):c.1270C>T (p.Arg424Trp)
NM_006726.4(LRBA):c.1316A>G (p.Asn439Ser) rs572309256
NM_006726.4(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_006726.4(LRBA):c.1541C>T (p.Ala514Val) rs187493744
NM_006726.4(LRBA):c.1659A>G (p.Lys553=) rs747052936
NM_006726.4(LRBA):c.188G>C (p.Arg63Thr)
NM_006726.4(LRBA):c.1924+4_1924+7delTATA
NM_006726.4(LRBA):c.192T>G (p.Asp64Glu)
NM_006726.4(LRBA):c.2126A>G (p.Asn709Ser)
NM_006726.4(LRBA):c.2209G>A (p.Val737Ile) rs151213445
NM_006726.4(LRBA):c.2345C>T (p.Thr782Ile) rs776922216
NM_006726.4(LRBA):c.2564A>G (p.Glu855Gly)
NM_006726.4(LRBA):c.281G>T (p.Cys94Phe)
NM_006726.4(LRBA):c.3262G>C (p.Glu1088Gln) rs142075710
NM_006726.4(LRBA):c.3280C>T (p.Pro1094Ser) rs1553982186
NM_006726.4(LRBA):c.3370A>G (p.Asn1124Asp)
NM_006726.4(LRBA):c.3413C>T (p.Ala1138Val) rs1004655907
NM_006726.4(LRBA):c.349A>G (p.Ile117Val)
NM_006726.4(LRBA):c.3691A>G (p.Ser1231Gly)
NM_006726.4(LRBA):c.3721A>T (p.Ile1241Phe)
NM_006726.4(LRBA):c.3743A>G (p.Asn1248Ser) rs140860135
NM_006726.4(LRBA):c.3748G>C (p.Ala1250Pro)
NM_006726.4(LRBA):c.3895T>C (p.Ser1299Pro) rs1553981489
NM_006726.4(LRBA):c.3905C>T (p.Thr1302Ile) rs756627280
NM_006726.4(LRBA):c.3950G>A (p.Arg1317His)
NM_006726.4(LRBA):c.3995T>C (p.Met1332Thr) rs570345199
NM_006726.4(LRBA):c.4200A>G (p.Ile1400Met)
NM_006726.4(LRBA):c.4817G>T (p.Gly1606Val)
NM_006726.4(LRBA):c.4855G>T (p.Val1619Leu)
NM_006726.4(LRBA):c.4876_4877delGCinsTT (p.Ala1626Leu)
NM_006726.4(LRBA):c.4946A>G (p.Asn1649Ser)
NM_006726.4(LRBA):c.499C>A (p.Arg167Ser)
NM_006726.4(LRBA):c.5026G>A (p.Val1676Ile) rs199597592
NM_006726.4(LRBA):c.5062A>G (p.Ile1688Val)
NM_006726.4(LRBA):c.5084T>C (p.Val1695Ala) rs200935054
NM_006726.4(LRBA):c.5149G>A (p.Val1717Met) rs143003767
NM_006726.4(LRBA):c.53G>T (p.Gly18Val)
NM_006726.4(LRBA):c.545G>A (p.Arg182Gln) rs769037604
NM_006726.4(LRBA):c.549+6A>C rs199594598
NM_006726.4(LRBA):c.5525T>C (p.Val1842Ala)
NM_006726.4(LRBA):c.5537C>T (p.Ser1846Leu) rs751188122
NM_006726.4(LRBA):c.5831A>G (p.Tyr1944Cys)
NM_006726.4(LRBA):c.5942G>A (p.Arg1981His)
NM_006726.4(LRBA):c.6059A>G (p.Lys2020Arg) rs908422044
NM_006726.4(LRBA):c.6082A>C (p.Thr2028Pro)
NM_006726.4(LRBA):c.6212T>C (p.Leu2071Ser)
NM_006726.4(LRBA):c.6247C>T (p.Pro2083Ser)
NM_006726.4(LRBA):c.6355G>A (p.Asp2119Asn) rs142598024
NM_006726.4(LRBA):c.6411G>T (p.Glu2137Asp) rs377051616
NM_006726.4(LRBA):c.6471G>C (p.Met2157Ile)
NM_006726.4(LRBA):c.6608G>A (p.Arg2203His)
NM_006726.4(LRBA):c.6695T>C (p.Ile2232Thr)
NM_006726.4(LRBA):c.6745G>T (p.Val2249Phe) rs1554034100
NM_006726.4(LRBA):c.6885A>C (p.Gln2295His)
NM_006726.4(LRBA):c.7110G>A (p.Met2370Ile) rs146268782
NM_006726.4(LRBA):c.7220A>G (p.Asn2407Ser) rs149731019
NM_006726.4(LRBA):c.7289A>C (p.Tyr2430Ser) rs376374926
NM_006726.4(LRBA):c.737A>G (p.Asn246Ser)
NM_006726.4(LRBA):c.7397C>G (p.Ala2466Gly) rs542791563
NM_006726.4(LRBA):c.7497G>A (p.Met2499Ile)
NM_006726.4(LRBA):c.7597A>C (p.Thr2533Pro) rs62346982
NM_006726.4(LRBA):c.7670A>G (p.Gln2557Arg) rs769697590
NM_006726.4(LRBA):c.7675G>T (p.Ala2559Ser) rs780327383
NM_006726.4(LRBA):c.7720C>T (p.Leu2574Phe) rs202014892
NM_006726.4(LRBA):c.7834G>A (p.Val2612Ile)
NM_006726.4(LRBA):c.7873A>G (p.Thr2625Ala) rs148991943
NM_006726.4(LRBA):c.787C>G (p.Leu263Val) rs143625481
NM_006726.4(LRBA):c.8057C>T (p.Thr2686Ile) rs202244838
NM_006726.4(LRBA):c.8104T>G (p.Cys2702Gly)
NM_006726.4(LRBA):c.8134_8136delGTG (p.Val2712del)
NM_006726.4(LRBA):c.8281G>A (p.Gly2761Ser)
NM_006726.4(LRBA):c.8350G>A (p.Ala2784Thr)
NM_006726.4(LRBA):c.8473C>T (p.Arg2825Trp)
NM_006726.4(LRBA):c.8494G>A (p.Asp2832Asn) rs191145485
NM_006726.4(LRBA):c.8564G>A (p.Trp2855Ter) rs1323561325
NM_006726.4(LRBA):c.913G>A (p.Val305Ile)
NM_012092.3(ICOS):c.401A>C (p.Gln134Pro) rs367905290
NM_012092.3(ICOS):c.586+2T>A
NM_012452.2(TNFRSF13B):c.*86_*88delTGA rs150068036
NM_012452.2(TNFRSF13B):c.145T>C (p.Ser49Pro)
NM_012452.2(TNFRSF13B):c.17G>A (p.Arg6Gln) rs747078163
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012452.2(TNFRSF13B):c.290C>G (p.Pro97Arg) rs754139414
NM_012452.2(TNFRSF13B):c.364C>T (p.Arg122Trp)
NM_012452.2(TNFRSF13B):c.453G>C (p.Pro151=) rs768819413
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.515G>A (p.Cys172Tyr) rs751216929
NM_012452.2(TNFRSF13B):c.532T>C (p.Phe178Leu) rs764319738
NM_012452.2(TNFRSF13B):c.566G>T (p.Arg189Met) rs199777698
NM_012452.2(TNFRSF13B):c.568G>A (p.Gly190Arg)
NM_012452.2(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338
NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys)
NM_012452.2(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824
NM_012452.2(TNFRSF13B):c.631+8C>T
NM_012452.2(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464
NM_012452.2(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960
NM_012452.2(TNFRSF13B):c.716C>T (p.Ala239Val) rs375891337
NM_012452.2(TNFRSF13B):c.740C>T (p.Thr247Met)
NM_012452.2(TNFRSF13B):c.754G>A (p.Asp252Asn) rs111439115
NM_012452.2(TNFRSF13B):c.76T>C (p.Trp26Arg)
NM_012452.2(TNFRSF13B):c.828C>G (p.Asp276Glu) rs144383122
NM_012452.2(TNFRSF13B):c.838G>C (p.Gly280Arg)
NM_013314.3(BLNK):c.1021G>A (p.Val341Ile)
NM_013314.3(BLNK):c.178G>A (p.Glu60Lys)
NM_013314.3(BLNK):c.254T>C (p.Val85Ala)
NM_013314.3(BLNK):c.335T>C (p.Leu112Pro)
NM_013314.3(BLNK):c.652G>A (p.Ala218Thr)
NM_013314.3(BLNK):c.88G>C (p.Gly30Arg) rs143109144
NM_013314.3(BLNK):c.926C>T (p.Pro309Leu) rs1177361907
NM_020070.3(IGLL1):c.197G>A (p.Arg66Gln)
NM_020070.3(IGLL1):c.21G>C (p.Gln7His)
NM_020070.3(IGLL1):c.254G>A (p.Arg85Gln)
NM_020070.3(IGLL1):c.258delG (p.Gln88Asnfs) rs532338576
NM_020070.3(IGLL1):c.322+3_322+6delAAGT
NM_020070.3(IGLL1):c.362C>T (p.Pro121Leu)
NM_020070.3(IGLL1):c.377T>C (p.Leu126Pro)
NM_020070.3(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020070.3(IGLL1):c.458G>T (p.Gly153Val)
NM_020070.3(IGLL1):c.520_521delGCinsAT (p.Ala174Met) rs1555903974
NM_020070.3(IGLL1):c.521C>T (p.Ala174Val)
NM_020070.3(IGLL1):c.553C>T (p.Gln185Ter)
NM_020070.3(IGLL1):c.606_609delCGTGinsTGCA (p.Val203Ala)
NM_020070.3(IGLL1):c.607G>A (p.Val203Met) rs771552908
NM_020070.3(IGLL1):c.616A>T (p.Thr206Ser) rs139491925
NM_052945.3(TNFRSF13C):c.122C>T (p.Pro41Leu) rs1556159000
NM_052945.3(TNFRSF13C):c.181G>A (p.Glu61Lys) rs1052712048
NM_052945.3(TNFRSF13C):c.478A>G (p.Ser160Gly)
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543
NM_152866.2(MS4A1):c.315G>C (p.Glu105Asp)
NM_181523.2(PIK3R1):c.1019+6G>C rs749016701
NM_181523.2(PIK3R1):c.1020-3C>T rs200653607
NM_181523.2(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.2(PIK3R1):c.504T>A (p.Asp168Glu)
NM_181523.2(PIK3R1):c.611G>A (p.Ser204Asn)
NM_181523.2(PIK3R1):c.635-7C>G
NM_181523.2(PIK3R1):c.649G>A (p.Glu217Lys)
NM_181523.2(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648
NM_181523.2(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210
NM_181523.3(PIK3R1):c.917-1513G>T

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