ClinVar Miner

List of variants in gene PKD1 reported as pathogenic by Gharavi Laboratory,Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter) rs1383556063
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.1206_1207del (p.His403fs) rs1567216675
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.1722+1G>A rs1567214706
NM_001009944.3(PKD1):c.1723-2A>G rs1567214052
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2098-1G>C rs1567211807
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs) rs1567211181
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs) rs1567207841
NM_001009944.3(PKD1):c.3128del (p.Val1043fs) rs1567206632
NM_001009944.3(PKD1):c.384del (p.Glu128fs) rs1567219155
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter)
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter)
NM_001009944.3(PKD1):c.7490-2A>T rs1567185163
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter) rs1567185138
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs) rs1567177760
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.964_965dup (p.His323fs) rs1567217428
NM_001009944.3(PKD1):c.9912_9913CT[1] (p.Ser3305fs) rs1567169638

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.