ClinVar Miner

List of variants reported as pathogenic for congenital afibrinogenemia by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)	rs121909625	0.00003
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)	rs121913087

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