ClinVar Miner

List of variants studied for Deficiency of acetyl-CoA acetyltransferase by The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr) rs2135334430
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala) rs1565288701

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