ClinVar Miner

List of variants studied for Familial dysfibrinogenemia

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021870.3(FGG):c.709T>C (p.Tyr237His) rs762488338 0.00005
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_005141.5(FGB):c.749A>G (p.Glu250Gly) rs759800033 0.00003
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.1330G>A (p.Gly444Ser)
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr) rs2110761933
NM_005141.5(FGB):c.419C>A (p.Thr140Asn)
NM_005141.5(FGB):c.490+1G>C rs111502670
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
NM_005141.5(FGB):c.569A>G (p.Asn190Ser)
NM_005141.5(FGB):c.679T>C (p.Cys227Arg) rs1578783532
NM_005141.5(FGB):c.811G>T (p.Asp271Tyr) rs913936601
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.1006A>T (p.Met336Leu)
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
NM_021870.3(FGG):c.1037A>G (p.Asp346Gly)
NM_021870.3(FGG):c.1067A>G (p.Asp356Gly)
NM_021870.3(FGG):c.124-2A>G
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) rs2110850824
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) rs1578812509
NM_021870.3(FGG):c.702G>T (p.Trp234Cys)
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
NM_021871.4(FGA):c.117del (p.Val40fs) rs762964798
NM_021871.4(FGA):c.1517del (p.Leu506fs)
NM_021871.4(FGA):c.1754del (p.Ser585fs)
NM_021871.4(FGA):c.448C>T (p.Gln150Ter) rs763715993
NM_021871.4(FGA):c.541C>T (p.Arg181Ter)

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