List of variants in gene PKHD1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	rs137852949	0.00066
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)	rs200179145	0.00044
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)	rs369925690	0.00008
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	rs770461067	0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)	rs201082169	0.00002
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	rs1334145215
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs)	rs1554169567
NM_138694.4(PKHD1):c.1959del (p.Glu654fs)
NM_138694.4(PKHD1):c.2543G>A (p.Trp848Ter)	rs1581928360
NM_138694.4(PKHD1):c.5375del (p.Leu1792fs)	rs1266902064
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)	rs774050795

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.