ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000411.8(HLCS):c.2010-1G>A rs1158898827
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.516_518TGT[1] (p.Val174del) rs1566936030
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113

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.