List of variants reported as likely pathogenic for Congenital factor VII deficiency

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Total variants: 32

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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.413A>G (p.Gln138Arg)	rs200016360	0.00008
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.403G>A (p.Gly135Ser)	rs763458490	0.00004
NM_019616.4(F7):c.961G>A (p.Gly321Ser)	rs1250853566	0.00003
NM_019616.4(F7):c.400G>A (p.Gly134Ser)	rs563972504	0.00002
NM_000131.4(F7):c.-61T>G	rs1367115848	0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.1105G>A (p.Gly369Ser)	rs190485816	0.00001
NM_019616.4(F7):c.505+78G>A	rs764741909	0.00001
NM_019616.4(F7):c.656C>A (p.Thr219Asn)	rs1160146175	0.00001
NM_019616.4(F7):c.1099T>G (p.Cys367Gly)	rs121964934
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.145G>C (p.Gly49Arg)	rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys)	rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.580G>C (p.Gly194Arg)
NM_019616.4(F7):c.64+1005G>A
NM_019616.4(F7):c.649G>C (p.Gly217Arg)	rs2142229154
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.857T>C (p.Leu286Pro)	rs2142232799
NM_019616.4(F7):c.86C>A (p.Ala29Asp)	rs2036074360
NM_019616.4(F7):c.871del (p.Val291fs)	rs2142232898
NM_019616.4(F7):c.895C>T (p.Leu299Phe)
NM_019616.4(F7):c.974del (p.Leu325fs)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]

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