ClinVar Miner

List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)	rs1305448140	0.00001
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496	0.00001
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)	rs541517496

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