ClinVar Miner

List of variants in gene VHL reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NC_000003.12:g.10141751T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.-73C>T rs1034934219 0.00032
NM_000551.3(VHL):c.-188G>A rs966586600 0.00023
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000551.3(VHL):c.-110C>G rs1696106905
NM_000551.3(VHL):c.-122T>C rs1212094215
NM_000551.4(VHL):c.-61_-51dup rs727503743

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.