ClinVar Miner

List of variants reported as likely benign for beta-ketothiolase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):

Deficiency of acetyl-CoA acetyltransferase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000019.3(ACAT1):c.*258G>A	rs79764488	0.01061
NM_000019.3(ACAT1):c.*753C>T	rs186239800	0.00036
NM_000019.4(ACAT1):c.*6dup	rs111390656

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