ClinVar Miner

List of variants reported as benign for agammaglobulinemia by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
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.1015-20dup 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.4485C>T (p.Gly1495=) rs11735845
NM_001364905.1(LRBA):c.4570-6del rs145452262
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys) rs35879351
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.678A>G (p.Thr226=) rs2230735
NM_005026.5(PIK3CD):c.931-9G>C rs28730669
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_013314.3(BLNK):c.48G>A (p.Arg16=) rs11540858
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.549C>T (p.Pro183=) rs75088277
NM_020070.4(IGLL1):c.566G>A (p.Arg189His) rs8138122
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601

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