ClinVar Miner

List of variants reported as pathogenic for Deficiency of acetyl-CoA acetyltransferase by Department of Pediatrics, Gifu University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907 0.00001
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838 0.00001
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) rs1469248513 0.00001
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.1006-1G>A rs1131691567
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) rs1591374544
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) rs1591375843
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.446del (p.Val149fs) rs1591367375
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) rs1591367422
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.731-46_752del rs1591370141
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) rs1591370221
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.941-9T>A rs980651269

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.