ClinVar Miner

List of variants reported as benign for activated PI3K-delta syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_005026.5(PIK3CD):c.1002C>T (p.Asn334=) rs28730670
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671
NM_005026.5(PIK3CD):c.1035C>T (p.Ala345=) rs28730672
NM_005026.5(PIK3CD):c.1366A>G (p.Thr456Ala) rs28730674
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005026.5(PIK3CD):c.1629G>A (p.Pro543=) rs190710687
NM_005026.5(PIK3CD):c.1689+20T>C rs181919452
NM_005026.5(PIK3CD):c.1710C>T (p.Ser570=) rs200918933
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092
NM_005026.5(PIK3CD):c.1863C>T (p.Tyr621=) rs151235777
NM_005026.5(PIK3CD):c.1953C>T (p.Leu651=) rs140468930
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772
NM_005026.5(PIK3CD):c.2235C>T (p.Cys745=) rs138742347
NM_005026.5(PIK3CD):c.2319C>T (p.Ser773=) rs139848768
NM_005026.5(PIK3CD):c.2426+8C>T rs770571023
NM_005026.5(PIK3CD):c.2427-7T>G rs369339827
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081
NM_005026.5(PIK3CD):c.3093G>C (p.Val1031=) rs149090253
NM_005026.5(PIK3CD):c.342C>T (p.Asn114=) rs201273776
NM_005026.5(PIK3CD):c.371-3C>T rs113176101
NM_005026.5(PIK3CD):c.371-5C>T rs149617980
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826
NM_005026.5(PIK3CD):c.678A>G (p.Thr226=) rs2230735
NM_005026.5(PIK3CD):c.708G>A (p.Pro236=) rs145697393
NM_005026.5(PIK3CD):c.825C>G (p.Thr275=) rs149175819
NM_005026.5(PIK3CD):c.886G>A (p.Val296Ile) rs28730668
NM_005026.5(PIK3CD):c.931-9G>C rs28730669
NM_005026.5(PIK3CD):c.935C>G (p.Ser312Cys) rs61755420
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317
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.634+6T>C rs199530427
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949
NM_181523.3(PIK3R1):c.837-7C>T rs571365105

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.