List of variants reported as pathogenic for Congenital factor VII deficiency

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	rs121964926	0.00118
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
NM_019616.4(F7):c.854G>A (p.Arg285His)	rs121964929	0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met)	rs531225271	0.00008
NM_019616.4(F7):c.364+1G>A	rs1056071555	0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val)	rs121964931	0.00006
NM_019616.4(F7):c.868G>A (p.Val290Met)	rs201991361	0.00005
NM_019616.4(F7):c.568C>T (p.Arg190Ter)	rs756151764	0.00002
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.615+1G>T	rs769452933	0.00001
NM_000131.4(F7):c.-55C>T	rs1418012389
NM_019616.4(F7):c.1099T>G (p.Cys367Gly)	rs121964934
NM_019616.4(F7):c.1263C>G (p.Tyr421Ter)	rs1293477494
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207
NM_019616.4(F7):c.225+1G>C	rs1566906827
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.783_799del (p.Arg262fs)	rs786205091

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