ClinVar Miner

List of variants reported as uncertain significance for 3-methylglutaconic aciduria type 1 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001698.3(AUH):c.374G>A (p.Arg125Gln) rs137939308 0.00004
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367

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.