ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.3(IVD):c.507delG (p.Glu169Aspfs) rs398123684
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.4(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.1206del (p.Ile402fs)
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
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.243G>A (p.Trp81Ter)
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.784+1G>A rs763471771
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475

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