ClinVar Miner

List of variants in gene PEX1 reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2783+2T>C rs1585224312

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.