List of variants reported as likely pathogenic for congenital afibrinogenemia

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00222
NM_000508.3(FGA):c.92G>T (p.Gly31Val)	rs121909605	0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_021871.4(FGA):c.364+1G>A	rs778779380	0.00001
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)	rs121909613
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)	rs1731071910
NM_021870.3(FGG):c.1242del (p.Phe415fs)
NM_021871.4(FGA):c.103C>G (p.Arg35Gly)	rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs)	rs1299596156
NM_021871.4(FGA):c.1339del (p.Glu447fs)
NM_021871.4(FGA):c.1452del (p.Ser485fs)
NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)
NM_021871.4(FGA):c.294_296del (p.Asn99del)
NM_021871.4(FGA):c.431_432del (p.Lys144fs)	rs934668242
NM_021871.4(FGA):c.473dup (p.Asn158fs)
NM_021871.4(FGA):c.607C>T (p.Gln203Ter)
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	rs776817952

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