List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	rs762991875	0.00006
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	rs199524907	0.00004
NM_000019.4(ACAT1):c.1006-2A>C	rs145229472	0.00003
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)	rs532190594	0.00002
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	rs148639841	0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	rs120074144	0.00001
NM_000019.4(ACAT1):c.826+1G>T	rs727503796	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	rs1476273214
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	rs749873354

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