ClinVar Miner

List of variants studied for Deficiency of isobutyryl-CoA dehydrogenase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_014384.2(ACAD8):c.1000C>T (p.Arg334Cys)
NM_014384.2(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter)
NM_014384.2(ACAD8):c.250C>G (p.Leu84Val) rs1330918776
NM_014384.2(ACAD8):c.292T>C (p.Ser98Pro)
NM_014384.2(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.308T>G (p.Leu103Arg)
NM_014384.2(ACAD8):c.380+7G>T rs1335335796
NM_014384.2(ACAD8):c.409G>A (p.Gly137Arg) rs371449613
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.643A>G (p.Ile215Val)
NM_014384.2(ACAD8):c.734C>T (p.Ala245Val) rs780609527
NM_014384.2(ACAD8):c.784G>A (p.Glu262Lys) rs368653287
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.2(ACAD8):c.905G>C (p.Arg302Pro)
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_014384.2(ACAD8):c.965T>C (p.Met322Thr) rs577976129
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420

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.