ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.(?_151231361)_(151271331_?)del
NC_000004.11:g.(?_151509180)_(151656538_?)del
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)
NM_001783.3(CD79A):c.198G>A (p.Trp66Ter) rs1568801716
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.227_231delGCAAG
NM_012452.2(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.2(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882
NM_012452.2(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.2(TNFRSF13B):c.572dup (p.Asp191fs) rs769165409
NM_012452.2(TNFRSF13B):c.579C>A (p.Cys193Ter)
NM_012452.2(TNFRSF13B):c.61+1G>T
NM_012452.2(TNFRSF13B):c.95_96dupGA
NM_013314.3(BLNK):c.114delG rs1554906579
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.965del (p.Met322fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.