ClinVar Miner

List of variants studied for Isovaleryl-CoA dehydrogenase deficiency by Baylor Genetics

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Total variants: 15
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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_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844
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.550+1G>A rs377147994
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766

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