ClinVar Miner

List of variants in gene PKHD1 reported as uncertain significance by Gharavi Laboratory,Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_138694.4(PKHD1):c.11601_11602TG[1] (p.Val3868fs) rs1561991558
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.3334_3335insTTT (p.Thr1112delinsIleSer) rs1562188854
NM_138694.4(PKHD1):c.7118T>C (p.Leu2373Pro) rs1562532468
NM_138694.4(PKHD1):c.8243_8244delinsCT (p.Gly2748Ala) rs1562410143
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9560del (p.Ser3187fs) rs1562222437
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540

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.