ClinVar Miner

List of variants in gene PIK3R1 reported as likely benign for activated PI3K-delta syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=) rs781406681
NM_181523.3(PIK3R1):c.1020-3C>T rs200653607
NM_181523.3(PIK3R1):c.1119-9T>C rs369244066
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=) rs149905863
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=) rs149090706
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=) rs1580267244
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=) rs201618039
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=) rs779578323
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=) rs149852476
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=) rs771574512
NM_181523.3(PIK3R1):c.427+5C>A rs375394677
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=) rs575150982

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