ClinVar Miner

List of variants studied for Thrombophilia due to thrombin defect by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_000506.5(F2):c.371G>A (p.Arg124Gln) rs139148365 0.00022

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