ClinVar Miner

List of variants in gene VHL reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.222C>A (p.Val74=) rs759737367
NM_000551.4(VHL):c.223_225del (p.Ile75del) rs794729660
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824

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.