ClinVar Miner

List of variants reported as pathogenic 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_021870.2(FGG):c.902G>A (p.Arg301His)	rs121913088	0.00001
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087

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