ClinVar Miner

List of variants reported as likely pathogenic for Isovaleryl-CoA dehydrogenase deficiency by Baylor Genetics

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Total variants: 4
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HGVS dbSNP
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546

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