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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.1136G>T (p.Gly379Val)	rs120074143	0.00001
NM_000019.4(ACAT1):c.1163+2T>C	rs1280110907	0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)	rs120074148	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.935T>C (p.Ile312Thr)	rs120074146	0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)	rs120074147	0.00001
NM_000019.4(ACAT1):c.1006-1G>C	rs1131691567
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)	rs387906282
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)	rs387906283
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr)	rs120074140
NM_000019.4(ACAT1):c.149del (p.Thr50fs)	rs779565865
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser)	rs120074145
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)	rs120074142

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