ClinVar Miner

List of variants reported as benign for Deficiency of isobutyryl-CoA dehydrogenase by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014384.3(ACAD8):c.*190C>T rs111296476 0.04945
NM_014384.3(ACAD8):c.*377C>T rs74738493 0.04945
NM_014384.3(ACAD8):c.*202A>C rs79738869 0.04943
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_014384.3(ACAD8):c.*195G>C rs113572770 0.04796
NM_014384.3(ACAD8):c.*277C>T rs75645586 0.04668
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_014384.3(ACAD8):c.211-4A>G rs517424 0.00927
NM_014384.3(ACAD8):c.*168G>A rs144390733 0.00658
NM_014384.3(ACAD8):c.*683A>G rs112534410 0.00538

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