ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771

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.