ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
NM_002225.5(IVD):c.1206del (p.Ile402fs)
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)

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