ClinVar Miner

List of variants studied for Familial dysfibrinogenemia by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 11
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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_021870.3(FGG):c.709T>C (p.Tyr237His) rs762488338 0.00005
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_005141.5(FGB):c.1330G>A (p.Gly444Ser)
NM_005141.5(FGB):c.419C>A (p.Thr140Asn)
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1754del (p.Ser585fs)

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