ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_002225.5(IVD):c.688-85A>G rs2289330 0.65147
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_002225.5(IVD):c.457-120C>T rs8034416 0.61186
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_002225.5(IVD):c.*2275T>C rs11790 0.59170
NM_002225.5(IVD):c.*1471G>A rs4923865 0.56828
NM_002225.5(IVD):c.*1577C>G rs11630850 0.47386
NM_002225.5(IVD):c.*808C>G rs2075625 0.45103
NM_002225.5(IVD):c.*2844T>C rs7207 0.45094
NM_002225.5(IVD):c.*1610C>T rs11630878 0.44933
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_002225.5(IVD):c.*2912G>A rs11557072 0.08940
NM_002225.5(IVD):c.*596G>A rs115034694 0.02695
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_002225.5(IVD):c.*447C>G rs79191320 0.02689
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02192
NM_002225.5(IVD):c.*14C>T rs8040294 0.02023
NM_002225.5(IVD):c.*1208G>A rs7165233 0.01462
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_002225.5(IVD):c.235-18G>A rs78272986 0.01081
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00363
NM_002225.5(IVD):c.235-19T>C rs144063157 0.00186
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.*2070C>T rs187887699 0.00062
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_002225.5(IVD):c.597C>T (p.Gly199=) rs754418427 0.00020
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234 0.00005
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*825C>A rs7182052
NM_002225.5(IVD):c.688-14del rs561133272

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.