ClinVar Miner

List of variants reported as uncertain significance for Isovaleryl-CoA dehydrogenase deficiency by Counsyl

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Total variants: 12
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HGVS dbSNP
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1139-3C>G rs367891946
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.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.712_714AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843

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