ClinVar Miner

List of variants reported as uncertain significance for Isovaleryl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1090A>G
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*112G>T
NM_002225.5(IVD):c.*1172C>T
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1240T>A
NM_002225.5(IVD):c.*1245C>T
NM_002225.5(IVD):c.*1313C>G
NM_002225.5(IVD):c.*131G>A
NM_002225.5(IVD):c.*1636G>A
NM_002225.5(IVD):c.*1839C>G
NM_002225.5(IVD):c.*1884G>A
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T
NM_002225.5(IVD):c.*196G>A
NM_002225.5(IVD):c.*1984G>C
NM_002225.5(IVD):c.*2001G>A
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2125A>C
NM_002225.5(IVD):c.*2205C>T
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*287C>T
NM_002225.5(IVD):c.*2883T>A
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*2960C>T
NM_002225.5(IVD):c.*3036A>C
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*566A>T
NM_002225.5(IVD):c.*568A>T
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*652C>T
NM_002225.5(IVD):c.*699G>A
NM_002225.5(IVD):c.*787T>C
NM_002225.5(IVD):c.*798A>G
NM_002225.5(IVD):c.*805G>A
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1138+13C>T
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
NM_002225.5(IVD):c.879-5G>A rs750569823

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.