List of variants reported as likely pathogenic 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: 6

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HGVS	dbSNP	gnomAD frequency
NC_000021.9:g.34799252_36071979del
NM_001754.5(RUNX1):c.268del (p.Val90fs)	rs2146409966
NM_001754.5(RUNX1):c.389T>A (p.Val130Asp)	rs2146363217
NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs)	rs2146235138
NM_001754.5(RUNX1):c.735del (p.Thr246fs)	rs2146075448
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter)	rs2145906974

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