ClinVar Miner

List of variants reported as benign for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NC_000014.8:g.106322093G>C rs113762053
NC_000014.8:g.106322261C>T rs201981439
NC_000014.9:g.105855041A>G
NM_000061.2(BTK):c.*116A>C rs700
NM_000061.2(BTK):c.*192G>A rs1057403
NM_000061.2(BTK):c.*334T>G rs183674618
NM_000061.2(BTK):c.1899C>T (p.Cys633=) rs1135363
NM_000061.2(BTK):c.954T>C (p.Ser318=) rs5991926
NM_001006658.2(CR2):c.1617C>T (p.Thr539=) rs34349246
NM_001322934.2(NFKB2):c.2094C>T (p.Asn698=) rs11574851
NM_001322934.2(NFKB2):c.2239C>T (p.Leu747=) rs11191279
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853
NM_001364905.1(LRBA):c.1015-10del rs753223643
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=) rs62344598
NM_001364905.1(LRBA):c.1603-4G>T rs143754610
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982
NM_001770.5(CD19):c.1541G>A (p.Arg514His) rs34763945
NM_001770.5(CD19):c.520C>G (p.Leu174Val) rs2904880
NM_003200.5(TCF3):c.302A>G (p.Lys101Arg)
NM_004356.4(CD81):c.597C>T (p.Ser199=)
NM_005026.5(PIK3CD):c.1689+20T>C
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=)
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679
NM_005026.5(PIK3CD):c.371-3C>T rs113176101
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=) rs2230735
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668
NM_005026.5(PIK3CD):c.931-9G>C rs28730669
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_006060.6(IKZF1):c.161-8328C>A
NM_012092.3(ICOS):c.150A>G (p.Gln50=) rs55972840
NM_012092.3(ICOS):c.501+7G>A rs57149344
NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_012452.2(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
NM_013314.4(BLNK):c.362-17T>C
NM_019594.3(LRRC8A):c.1458C>T (p.Pro486=)
NM_019594.3(LRRC8A):c.1509C>T (p.Thr503=) rs3750318
NM_019594.3(LRRC8A):c.1803T>C (p.Cys601=)
NM_019594.3(LRRC8A):c.2118C>G (p.Leu706=)
NM_019594.3(LRRC8A):c.51C>T (p.Tyr17=)
NM_019594.3(LRRC8A):c.774C>T (p.Asp258=) rs41275930
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser) rs139571703
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479
NM_021950.3(MS4A1):c.216C>T (p.Ile72=) rs2070770
NM_052945.3(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601
NM_182972.2(IRF2BP2):c.294_295insAGC (p.Leu99_Gly100insSer)
NM_182972.2(IRF2BP2):c.352C>T (p.Pro118Ser)

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