List of variants reported as pathogenic for Thrombophilia due to thrombin defect

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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_005957.5(MTHFR):c.548G>A (p.Arg183Gln)	rs574132670	0.00001
NM_000506.3(F2):c.940C>T (p.Arg314Cys)	rs121918477
NM_000506.5(F2):c.1787G>A (p.Arg596Gln)	rs387907201
NM_000506.5(F2):c.1787G>T (p.Arg596Leu)	rs387907201

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