ClinVar Miner

List of variants reported as pathogenic for von Willebrand disease type 3 by Laboratory of Hematology, Radboud University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs) rs2136413727
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588

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.