ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of acetyl-CoA acetyltransferase by Baylor Genetics

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1163+1G>A rs1423476705 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.1005+2T>G rs2496647256
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.1097dup (p.Met366fs) rs2496659335
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs) rs2496581613
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs) rs2496584464
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236
NM_000019.4(ACAT1):c.363_364insT (p.Ile122fs) rs2496591844
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) rs2135341631
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg) rs2077446835
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.580-2A>G rs2496621154
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs) rs2496621306
NM_000019.4(ACAT1):c.626dup (p.Asn209fs) rs2496621683
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs) rs764568533
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter) rs2496516251
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs) rs2496622561
NM_000019.4(ACAT1):c.720dup (p.Thr241fs) rs2496622595
NM_000019.4(ACAT1):c.731-1G>A rs2496630751
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs) rs1476922493
NM_000019.4(ACAT1):c.814del (p.Gln272fs) rs2496631494
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097

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