ClinVar Miner

List of variants studied for classic organic aciduria by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter) rs200735240
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)

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.