ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type by Centre for Genetic Disorders, Banaras Hindu University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) rs780009030
NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) rs1555448106
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) rs1555446033
NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) rs1286585831
NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) rs1555444249
NM_001009944.3(PKD1):c.445del (p.Gln149fs) rs796052133
NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) rs1555454915
NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) rs1555452400
NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) rs1555450475
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523

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.