ClinVar Miner

List of variants reported as likely benign for Deficiency of isobutyryl-CoA dehydrogenase by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_014384.3(ACAD8):c.211-20C>T rs200508056 0.00089
NM_014384.3(ACAD8):c.110-17T>C rs372435194 0.00054
NM_014384.3(ACAD8):c.380+17G>T rs201079276 0.00025
NM_014384.3(ACAD8):c.939+11C>T rs372904463 0.00016
NM_014384.3(ACAD8):c.178A>G (p.Met60Val) rs374985215 0.00012
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=) rs374692738 0.00011
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) rs572820646 0.00010
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_014384.3(ACAD8):c.110-9T>C rs371550147 0.00009
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln) rs749474432 0.00009
NM_014384.3(ACAD8):c.567+8C>T rs574233188 0.00009
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_014384.3(ACAD8):c.842-18G>A rs578153873 0.00008
NM_014384.3(ACAD8):c.984C>T (p.Ala328=) rs766640729 0.00007
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser) rs200170162 0.00006
NM_014384.3(ACAD8):c.846C>G (p.Ser282=) rs200330956 0.00006
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080 0.00005
NM_014384.3(ACAD8):c.615C>T (p.Cys205=) rs200275294 0.00004
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val) rs780609527 0.00001
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
NM_014384.3(ACAD8):c.1195+10G>A
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA rs2136084544
NM_014384.3(ACAD8):c.1196-9C>G
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
NM_014384.3(ACAD8):c.210+7G>A
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.27C>T (p.Phe9=) rs2136068044
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
NM_014384.3(ACAD8):c.380+7G>T rs1335335796
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.804T>C (p.Ile268=) rs757519037
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
NM_014384.3(ACAD8):c.842-19C>T
NM_014384.3(ACAD8):c.909G>A (p.Lys303=) rs2136082667
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)

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.