List of variants reported as pathogenic for coagulation protein disease by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)	rs148685782	0.00222
NM_000128.4(F11):c.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter)	rs137852439
NM_019616.4(F7):c.1325del (p.Pro442fs)	rs750457207

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.