ClinVar Miner

List of variants reported as uncertain significance for peroxisomal disease by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001752.4(CAT):c.903+5G>T rs147912187 0.00169
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_001351132.2(PEX5):c.140_147+36del
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108

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.