List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.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.1006-1G>C	rs1131691567
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)	rs541517496

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