ClinVar Miner

List of variants studied 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: 5
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
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
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) rs886048338

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