ClinVar Miner

List of variants studied for Congenital afibrinogenemia by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000508.5(FGA):c.2527T>C (p.Trp843Arg) rs1280924091 0.00001
NM_021871.4(FGA):c.1463G>A (p.Gly488Asp) rs1382669489 0.00001
NM_021871.4(FGA):c.1470C>G (p.Asp490Glu) rs1335171406 0.00001
NM_021871.4(FGA):c.1915A>G (p.Lys639Glu) rs1424019951 0.00001
NM_000508.5(FGA):c.2021T>C (p.Leu674Ser) rs2110806407
NM_000508.5(FGA):c.2024T>C (p.Ile675Thr) rs2110806390
NM_000508.5(FGA):c.2024T>G (p.Ile675Ser) rs2110806390
NM_000508.5(FGA):c.2128G>A (p.Gly710Ser) rs2110806103
NM_000508.5(FGA):c.2155del (p.Gln719fs) rs2110806028
NM_000508.5(FGA):c.2372A>T (p.Asp791Val) rs1479874554
NM_021870.3(FGG):c.1202G>A (p.Arg401Gln) rs2110838894
NM_021870.3(FGG):c.606G>C (p.Gln202His) rs2110846559
NM_021870.3(FGG):c.694A>G (p.Lys232Glu) rs2110844685
NM_021870.3(FGG):c.700T>C (p.Trp234Arg) rs2110844651
NM_021871.4(FGA):c.1930C>G (p.Pro644Ala) rs1730682953
NM_021871.4(FGA):c.829T>C (p.Tyr277His) rs1473392017

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