List of variants in gene ACAT1 reported as benign for autosomal recessive disease

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

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.435+78A>C	rs10890817	0.49701
NM_000019.3(ACAT1):c.*599A>C	rs2280332	0.28837
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	rs3741056	0.27945
NM_000019.4(ACAT1):c.1005+25C>T	rs10890819	0.26160
NM_000019.4(ACAT1):c.-9T>A	rs3741055	0.26111
NM_000019.4(ACAT1):c.238+134A>C	rs7931681	0.23898
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	rs35188041	0.16806
NM_000019.4(ACAT1):c.-15C>G	rs113348145	0.02192
NM_000019.3(ACAT1):c.*555A>G	rs111376037	0.01843
NM_000019.4(ACAT1):c.*179T>G	rs114728153	0.01290
NM_000019.3(ACAT1):c.*250C>T	rs79179095	0.01146
NM_000019.3(ACAT1):c.*293A>T	rs73559273	0.00975
NM_000019.3(ACAT1):c.*507G>A	rs12271846	0.00968
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)	rs73559264	0.00941
NM_000019.3(ACAT1):c.*214G>C	rs145690535	0.00839
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.-28T>A	rs36216231	0.00247
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_000019.3(ACAT1):c.777_780delAATT	rs112801981
NM_000019.4(ACAT1):c.*6dup	rs111390656
NM_000019.4(ACAT1):c.-22C>G	rs3741054
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.334+172C>G	rs12226047
NM_000019.4(ACAT1):c.335-3del
NM_000019.4(ACAT1):c.436-4G>A	rs3741050
NM_000019.4(ACAT1):c.826+85_826+86insGTAA	rs10682490
NM_000019.4(ACAT1):c.940+84C>T	rs12794010
NM_000019.4(ACAT1):c.941-7del	rs376661693

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