ClinVar Miner

List of variants studied for acquired aplastic anemia by OMIM

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_015937.6(PIGT):c.1401-2A>G rs587777028

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.