ClinVar Miner

List of variants studied for Polycystic kidney disease, adult type by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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.12479C>T (p.Pro4160Leu) rs780598231 0.00001
NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs) rs2091670117
NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)
NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)
NM_001009944.3(PKD1):c.1723-1G>C rs1596582948
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg) rs2151794130
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp) rs2151742372
NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)

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.