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

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Total variants: 11

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HGVS	dbSNP
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	rs371427844
NM_002225.5(IVD):c.1179del (p.Leu394fs)	rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	rs398123681
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	rs773560012
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	rs2229311
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	rs765815516
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	rs142761835
NM_002225.5(IVD):c.498del (p.Glu166fs)	rs398123684
NM_002225.5(IVD):c.550+1G>A	rs377147994
NM_002225.5(IVD):c.870dup (p.Pro291fs)	rs759159766
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	rs28940889

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