ClinVar Miner

List of variants in gene PIK3R1 reported as benign for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949
NM_181523.3(PIK3R1):c.837-7C>T rs571365105

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