ClinVar Miner

List of variants in gene PKD1 reported by Arkana Molecular Diagnostic Laboratory, Arkana Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.7796T>G (p.Leu2599Arg) rs2092321685
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623

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.