ClinVar Miner

List of variants in gene PIGA reported as pathogenic for acquired aplastic anemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
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_002641.3(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.3(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.3(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.3(PIGA):c.459_460insA (p.His154fs) rs587776724
PIGA, IVS5DS, G-A, +1, SOMATIC

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