ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial short-chain enoyl-coa hydratase 1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) rs754609693
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) rs775650144

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.