ClinVar Miner

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

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 25
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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.1366A>G (p.Thr456Ala) rs28730674
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626
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.2319C>T (p.Ser773=) rs139848768
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.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.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.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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