ClinVar Miner

List of variants in gene PIGA studied for aplastic anemia

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.3(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.3(PIGA):c.1188+2del rs587776723
NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_020473.3(PIGA):c.13+3733C>T rs199422233
NM_020473.3(PIGA):c.13+3819_13+3820insGT rs587776726
NM_020473.3(PIGA):c.13+3864C>A rs199422232
NM_020473.3(PIGA):c.13+4001del rs587776727
NM_020473.3(PIGA):c.13+4029_13+4030insA rs587776724

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