ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845
NM_138694.4(PKHD1):c.281+3A>G rs79803080
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=) rs536715802
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285
NM_138694.4(PKHD1):c.3365-32T>A rs139697312
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=) rs182468850
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=) rs78543922
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=) rs748084543
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878

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.