ClinVar Miner

List of variants studied for Familial dysfibrinogenemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021870.3(FGG):c.677G>T (p.Gly226Val) rs1310452604 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NC_000004.11:g.(?_155506411)_(155510715_155511785)del
NC_000004.11:g.(?_155506426)_(155511895_?)del
NC_000004.11:g.(?_155525322)_(155533809_?)del
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) rs121913091
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) rs1578812509
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993

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