ClinVar Miner

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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