ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of amino acid and other organic acid metabolism by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_000531.6(OTC):c.68G>A (p.Arg23Gln) rs148660170 0.00001
NM_000291.4(PGK1):c.360G>T (p.Glu120Asp) rs2149132255
NM_001918.5(DBT):c.532C>T (p.Arg178Cys)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)
NM_005629.4(SLC6A8):c.305G>A (p.Gly102Glu) rs2148360123

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.