ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NC_000015.9:g.(?_40705170)_(40710482_?)del
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
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.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942

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