ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708

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.