List of variants reported as uncertain significance for Deficiency of acetyl-CoA acetyltransferase by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)	rs753816946	0.00010
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)	rs1282394804	0.00003
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)	rs763375578	0.00001
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)

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