ClinVar Miner

List of variants reported as uncertain significance for Thrombophilia due to thrombin defect by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.1298+19G>A	rs753976233	0.00003
NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser)
NM_000506.5(F2):c.1598G>A (p.Arg533Gln)	rs1361766713

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