List of variants reported as uncertain significance for Deficiency of acetyl-CoA acetyltransferase by Illumina Laboratory Services, Illumina

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: 44

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.941-14C>T	rs12801620	0.00658
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.*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_000019.4(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.-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>C	rs3741050
NM_000019.4(ACAT1):c.941-13T>C	rs760991373
NM_000019.4(ACAT1):c.941-14_941-13insCT	rs1555034894

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.