List of variants in gene combination LOC126859690, PKHD1 reported as pathogenic for autosomal recessive disease

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	rs200391019	0.00006
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)	rs375437755	0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)	rs794727566	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)	rs1057516691
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)	rs1057516263
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)	rs2128143028
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)	rs1801949246
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)	rs727504087
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs)	rs2128142610
NM_138694.4(PKHD1):c.4816del (p.Val1606fs)	rs2128142490
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)	rs2128142414
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)	rs267601070
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)	rs2128142132
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)	rs779028446
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)	rs28937907
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)	rs2128141956
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)	rs1801882752
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)

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.