ClinVar Miner

List of variants reported as likely benign for Von Hippel-Lindau syndrome by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000551.3(VHL):c.271T>G (p.Phe91Val) rs1559426039
NM_000551.3(VHL):c.340+7G>C rs869025635
NM_000551.3(VHL):c.340+8C>T rs756068442
NM_000551.3(VHL):c.341-21_341-17del rs869025639
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298

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.