ClinVar Miner

List of variants reported as pathogenic for Isovaleryl-CoA dehydrogenase deficiency by OMIM

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Total variants: 3

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HGVS	dbSNP
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	rs34695403
NM_002225.5(IVD):c.785-1G>A	rs1555404784
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	rs28940889

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