ClinVar Miner

List of variants reported as benign for Deficiency of acetyl-CoA acetyltransferase by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02064
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00896
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00359

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