List of variants studied for coagulation protein disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000128.4(F11):c.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)	rs121964894	0.00004
NM_019616.4(F7):c.1158T>G (p.His386Gln)	rs121964936	0.00002
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)	rs905672088	0.00001
NM_000132.4(F8):c.5587-93C>T	rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu)	rs782668199
NM_000552.5(VWF):c.3179del (p.Cys1060fs)	rs762105711
NM_021870.3(FGG):c.1022G>A (p.Trp341Ter)	rs1553965519

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.