List of variants reported as pathogenic for Polycystic kidney disease 4 by Revvity Omics, Revvity

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)	rs746838237	0.00010
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)	rs398124502	0.00005
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)	rs770461067	0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)	rs137852947	0.00002
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)	rs727504089	0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)	rs1344820986	0.00001
NM_138694.4(PKHD1):c.8554+1G>A	rs1790925351	0.00001
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)	rs755183117
NM_138694.4(PKHD1):c.3561-1G>A	rs1802457333
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)	rs398124486
NM_138694.4(PKHD1):c.470dup (p.Trp158fs)	rs2128233941
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)	rs2128141956
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)	rs768660365
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)	rs2151512076

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.