ClinVar Miner

List of variants in gene PKD1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) rs1064797205
NM_001009944.3(PKD1):c.5557A>G (p.Thr1853Ala) rs1064797206
NM_001009944.3(PKD1):c.6622G>C (p.Gly2208Arg) rs779825346
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7495C>T (p.His2499Tyr) rs1439713011
NM_001009944.3(PKD1):c.7720C>T (p.Leu2574Phe) rs762784886
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225

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.