List of variants in gene PKHD1 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)	rs115045643	0.00681
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)	rs116809571	0.00632
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)	rs115338476	0.00551
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)	rs148932323	0.00287
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)	rs143616240	0.00100
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)	rs78518523	0.00076
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)	rs138968608	0.00070
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)	rs147612089	0.00056
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)	rs149163661	0.00054
NM_138694.4(PKHD1):c.434C>G (p.Pro145Arg)	rs146649894	0.00004
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	rs774290802	0.00002
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)	rs764734730	0.00001
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)	rs398124486
NM_138694.4(PKHD1):c.8677C>G (p.His2893Asp)	rs886061615

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.