ClinVar Miner

List of variants studied for Isovaleryl-CoA dehydrogenase deficiency by Department of Genetics,Sultan Qaboos University Hospital, Oman

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Total variants: 3
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NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791

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