ClinVar Miner

List of variants studied for Familial dysfibrinogenemia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr) rs2110761933
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1030G>C (p.Asp344His)

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