List of variants reported as likely pathogenic for congenital vitamin K-dependent coagulation factors deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019616.4(F7):c.854G>A (p.Arg285His)	rs121964929	0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met)	rs531225271	0.00008
NM_000504.4(F10):c.815T>C (p.Leu272Pro)
NM_000506.5(F2):c.1070A>G (p.Glu357Gly)	rs2134533215
NM_000506.5(F2):c.118C>T (p.Arg40Trp)
NM_000506.5(F2):c.1270G>A (p.Val424Met)	rs1310397756
NM_000506.5(F2):c.1496G>A (p.Gly499Glu)	rs2134537035
NM_000506.5(F2):c.995G>C (p.Gly332Ala)	rs2134532862
NM_019616.4(F7):c.196C>T (p.Arg66Trp)
NM_019616.4(F7):c.220A>G (p.Arg74Gly)	rs2142212748
NM_019616.4(F7):c.737T>C (p.Leu246Pro)	rs2142229513

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.