List of variants in gene VWF reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)	rs1800386	0.00237
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)	rs61751286	0.00014
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)	rs61750077	0.00010
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln)	rs62643634	0.00003
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)	rs61748466	0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His)	rs61749396	0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp)	rs370854023	0.00001
NM_000552.5(VWF):c.115G>A (p.Gly39Arg)
NM_000552.5(VWF):c.1179dup (p.Ser394fs)
NM_000552.5(VWF):c.1231C>T (p.Gln411Ter)
NM_000552.5(VWF):c.2646dup (p.Tyr883fs)
NM_000552.5(VWF):c.3735dup (p.Pro1246fs)	rs2136413939
NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro)	rs61749385
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe)	rs61749393
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)	rs61750069
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln)	rs61750097
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys)	rs267607347
NM_000552.5(VWF):c.7730-2del

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.