List of variants reported as benign for Deficiency of acetyl-CoA acetyltransferase by Invitae

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	rs3741056	0.27945
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	rs35188041	0.16806
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)	rs73559264	0.00941
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)	rs75811190	0.00390
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	rs139657823	0.00308
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	rs77311724	0.00219
NM_000019.4(ACAT1):c.238+17C>T	rs199918672	0.00182
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)	rs141131039	0.00101
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)	rs143892373	0.00014
NM_000019.4(ACAT1):c.239-10_239-8del
NM_000019.4(ACAT1):c.239-11_239-8del
NM_000019.4(ACAT1):c.239-8del	rs201199156
NM_000019.4(ACAT1):c.239-9_239-8del	rs201199156
NM_000019.4(ACAT1):c.335-3del
NM_000019.4(ACAT1):c.436-4G>A	rs3741050
NM_000019.4(ACAT1):c.941-7del	rs376661693

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