List of variants reported as likely pathogenic for Congenital prothrombin deficiency

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NC_000011.9:g.(?_46746328)_(46748347_?)del
NM_000506.3(F2):c.1273C>T (p.Arg425Cys)	rs121918479
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)	rs2134533215
NM_000506.5(F2):c.1094T>A (p.Val365Glu)	rs747234596
NM_000506.5(F2):c.118C>T (p.Arg40Trp)
NM_000506.5(F2):c.1270G>A (p.Val424Met)	rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)	rs2134537035
NM_000506.5(F2):c.1741C>T (p.Arg581Cys)
NM_000506.5(F2):c.1745G>A (p.Trp582Ter)
NM_000506.5(F2):c.1750C>T (p.Gln584Ter)	rs1401703940
NM_000506.5(F2):c.422+1G>A
NM_000506.5(F2):c.995G>C (p.Gly332Ala)	rs2134532862

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