ClinVar Miner

List of variants reported as benign for Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)	rs2056451534
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)

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