List of variants reported as likely pathogenic for Congenital factor VII deficiency by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_019616.4(F7):c.995C>T (p.Ala332Val)	rs36209567	0.00038
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.400G>A (p.Gly134Ser)	rs563972504	0.00002
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.505+78G>A	rs764741909	0.00001
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.649G>C (p.Gly217Arg)	rs2142229154

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