List of variants reported as pathogenic for Autosomal recessive polycystic kidney disease by Molecular Biology Laboratory, Fundació Puigvert

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.8407T>C (p.Cys2803Arg)	rs398124495	0.00011
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	rs746838237	0.00010
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	rs398124502	0.00005
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)	rs727504096	0.00001
NM_138694.4(PKHD1):c.8642+1G>A	rs1485161784	0.00001
NM_138694.4(PKHD1):c.1305del (p.Thr436fs)	rs1808150555
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)	rs1807855713
NM_138694.4(PKHD1):c.5334dup (p.Asn1779Ter)	rs1801600694
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)	rs1405067373
NM_138694.4(PKHD1):c.9348del (p.Leu3117fs)	rs1785501068
NM_138694.4(PKHD1):c.9386del (p.Gly3129fs)	rs1785493309

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.