List of variants reported as likely benign for congenital afibrinogenemia

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005141.5(FGB):c.1113A>G (p.Ser371=)	rs6057	0.00574
NM_021871.4(FGA):c.1542T>C (p.Pro514=)	rs4766	0.00426
NM_021870.3(FGG):c.78+9G>A	rs2066857	0.00345
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)	rs6054	0.00275
NM_005141.5(FGB):c.682A>G (p.Thr228Ala)	rs149599496	0.00272
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	rs2070031	0.00262
NM_021871.4(FGA):c.181-14C>T	rs190703077	0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=)	rs112877216	0.00240
NM_021871.4(FGA):c.780G>A (p.Glu260=)	rs145563362	0.00167
NM_021870.3(FGG):c.*535A>G	rs146143405	0.00140
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)	rs201909029	0.00038
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe)	rs184635235	0.00031
NM_005141.5(FGB):c.510T>A (p.Asn170Lys)	rs149963684	0.00011
NM_021870.3(FGG):c.274C>T (p.Leu92Phe)	rs142286849	0.00009
NM_021871.4(FGA):c.1444G>A (p.Val482Met)	rs139146037	0.00006
NM_021871.4(FGA):c.1560C>T (p.Phe520=)	rs778304190	0.00001

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.