ClinVar Miner

List of variants in gene PIK3R1 reported as uncertain significance for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_181523.3(PIK3R1):c.1019+6G>C rs749016701
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) rs755043940
NM_181523.3(PIK3R1):c.427+4A>C
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)
NM_181523.3(PIK3R1):c.635-7C>G rs1561289181
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) rs150689648
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) rs142439210

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.