ClinVar Miner

List of variants studied for peroxisomal disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg) rs1753477498
NM_000414.4(HSD17B4):c.280+1_280+3del rs2126684546
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415

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.