List of variants reported as pathogenic for congenital afibrinogenemia by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_021871.4(FGA):c.510+1G>T	rs146387238	0.00009
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	rs121909625	0.00003
NC_000004.12:g.(154580323_154580329)_(154590210_154590216)del
NM_005141.5(FGB):c.1148T>G (p.Leu383Arg)	rs121909621
NM_005141.5(FGB):c.1244+1G>T	rs606231224
NM_005141.5(FGB):c.1289G>A (p.Gly430Asp)	rs121909622
NM_005141.5(FGB):c.605T>A (p.Leu202Gln)	rs121909624
NM_005141.5(FGB):c.958+13C>T	rs606231223
NM_021870.3(FGG):c.307+5G>A	rs587776838
NM_021870.3(FGG):c.667-320A>T	rs587776839
NM_021870.3(FGG):c.78+5G>A	rs587776837
NM_021871.4(FGA):c.711dup (p.Lys238Ter)	rs606231225

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