List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Baylor Genetics

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Total variants: 18

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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.1006-2A>C	rs145229472	0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)	rs373771053	0.00002
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.949G>A (p.Asp317Asn)	rs780486838	0.00001
NM_000019.4(ACAT1):c.1006-1G>C	rs1131691567
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)	rs781496140
NM_000019.4(ACAT1):c.238+1G>A
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000019.4(ACAT1):c.435+1G>A	rs1591363834
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	rs1476273214
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
NM_000019.4(ACAT1):c.730+2T>C	rs398123096
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	rs749873354

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