ClinVar Miner

List of variants studied for Deficiency of acetyl-CoA acetyltransferase by Illumina Laboratory Services, Illumina

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Total variants: 65
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HGVS dbSNP gnomAD frequency
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.-9T>A rs3741055 0.26111
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.*258G>A rs79764488 0.01061
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.941-14C>T rs12801620 0.00658
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_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_000019.3(ACAT1):c.-70T>A rs566741161 0.00088
NM_000019.3(ACAT1):c.*753C>T rs186239800 0.00036
NM_000019.3(ACAT1):c.*574G>C rs775813923 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
NM_000019.3(ACAT1):c.*344T>C rs776705661 0.00009
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000019.3(ACAT1):c.*384A>C rs916588276 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.3(ACAT1):c.*464A>G rs886047602 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00004
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) rs752592672 0.00003
NM_000019.3(ACAT1):c.*365C>T rs145398051 0.00002
NM_000019.3(ACAT1):c.*393A>G rs886047601 0.00002
NM_000019.3(ACAT1):c.*291A>C rs771132416 0.00001
NM_000019.3(ACAT1):c.*591A>T rs886047604 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) rs2077588609 0.00001
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*467_*470dup rs537463051
NM_000019.3(ACAT1):c.*668G>T rs2077754843
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.239-7A>G rs2077417069
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894

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