ClinVar Miner

List of variants reported as pathogenic for activated PI3K-delta syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.965del (p.Met322fs) rs1580260232

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