ClinVar Miner

List of variants reported as likely pathogenic for blood platelet disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) rs769561588
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter) rs1589257502

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