ClinVar Miner

List of variants studied for agammaglobulinemia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (31):
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ClinVar version:
Total variants: 63
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HGVS dbSNP
NC_000014.8:g.106322093G>C rs113762053
NC_000014.8:g.106322261C>T rs201981439
NC_000014.9:g.105854900G>T
NC_000014.9:g.105855041A>G
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser) rs202001697
NM_001322934.2(NFKB2):c.2467-9T>A rs11574853
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=) rs11735845
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
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.381G>A (p.Ser127=) rs142342927
NM_001770.5(CD19):c.390T>A (p.Gly130=) rs573154781
NM_001770.5(CD19):c.395T>G (p.Leu132Arg) rs146795664
NM_001770.5(CD19):c.520C>G (p.Leu174Val) rs2904880
NM_001770.6(CD19):c.1198+2T>G
NM_003200.5(TCF3):c.1806G>A (p.Leu602=)
NM_003200.5(TCF3):c.23C>T (p.Ala8Val)
NM_003200.5(TCF3):c.302A>G (p.Lys101Arg)
NM_003200.5(TCF3):c.879_881CTC[1] (p.Ser295del)
NM_003200.5(TCF3):c.888C>T (p.Ala296=)
NM_004356.4(CD81):c.597C>T (p.Ser199=)
NM_005026.5(PIK3CD):c.1689+20T>C
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
NM_005026.5(PIK3CD):c.2320G>A (p.Val774Met)
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.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.451G>C (p.Val151Leu) rs76778263
NM_012092.3(ICOS):c.501+7G>A rs57149344
NM_013314.3(BLNK):c.195C>T (p.Ser65=) rs12261820
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
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.1699G>A (p.Val567Met) rs143836544
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.512A>G (p.Asn171Ser) rs1064421
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277
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.191G>T (p.Gly64Val) rs547352394
NM_052945.3(TNFRSF13C):c.229C>T (p.Leu77=) rs140820836
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543
NM_152866.3(MS4A1):c.194C>T (p.Ala65Val)
NM_182972.2(IRF2BP2):c.1180A>C (p.Thr394Pro)
NM_182972.2(IRF2BP2):c.294_295insAGC (p.Leu99_Gly100insSer)
NM_182972.2(IRF2BP2):c.352C>T (p.Pro118Ser)

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