List of variants reported as likely pathogenic for Deficiency of acetyl-CoA acetyltransferase by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	rs747714452	0.00003
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	rs120074141	0.00002
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.261dup (p.Glu88fs)	rs1201662412
NM_000019.4(ACAT1):c.571del (p.Ile191fs)	rs761038005
NM_000019.4(ACAT1):c.824del (p.Asn275fs)	rs1163072872

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