ClinVar Miner

List of variants in gene IVD reported as likely benign for Isovaleryl-CoA dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_002225.3(IVD):c.-39G>A rs114259808
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.5(IVD):c.*1376G>A
NM_002225.5(IVD):c.*2235G>A
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.961-6G>A rs199783007

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.