List of variants reported as likely pathogenic for Abnormality of coagulation

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His)	rs1800382	0.00907
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)	rs61750604	0.00094
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala)	rs144072210	0.00056
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln)	rs62643634	0.00003
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	rs137852435	0.00002
NM_000132.4(F8):c.599A>G (p.Glu200Gly)	rs782158761	0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His)	rs1047644991	0.00001
NM_019616.4(F7):c.1024C>T (p.Arg342Trp)	rs750980786	0.00001
NM_000133.4(F9):c.1067G>T (p.Trp356Leu)	rs1479241411
NM_000133.4(F9):c.835G>A (p.Ala279Thr)	rs137852247
NM_000552.5(VWF):c.3314C>A (p.Ala1105Asp)	rs1591866220
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)	rs61749384
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)	rs149834874
NM_019616.4(F7):c.1094T>C (p.Met365Thr)	rs1595080725

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.