ClinVar Miner

List of variants in gene PIK3CD reported as uncertain significance 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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NM_005026.3(PIK3CD):c.1189G>A (p.Val397Met)
NM_005026.3(PIK3CD):c.1574A>G (p.Glu525Gly)
NM_005026.4(PIK3CD):c.1002C>G (p.Asn334Lys)
NM_005026.4(PIK3CD):c.1065C>T (p.Cys355=) rs770064539
NM_005026.4(PIK3CD):c.1319A>G (p.Tyr440Cys)
NM_005026.4(PIK3CD):c.1379G>A (p.Arg460His) rs373779625
NM_005026.4(PIK3CD):c.1513G>A (p.Glu505Lys) rs545136223
NM_005026.4(PIK3CD):c.1777G>C (p.Gly593Arg) rs143068130
NM_005026.4(PIK3CD):c.1802G>A (p.Arg601Gln)
NM_005026.4(PIK3CD):c.2214C>A (p.Ser738Arg) rs755934302
NM_005026.4(PIK3CD):c.2311G>A (p.Gly771Ser)
NM_005026.4(PIK3CD):c.236_237del (p.Gln79Profs) rs1553168726
NM_005026.4(PIK3CD):c.2698A>G (p.Met900Val) rs1553171728
NM_005026.4(PIK3CD):c.854T>C (p.Met285Thr) rs557471275

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