ClinVar Miner

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

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Total variants: 10
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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.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134

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