ClinVar Miner

List of variants in gene ACAT1 reported as likely benign for beta-ketothiolase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 316
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000019.3(ACAT1):c.*258G>A rs79764488 0.01061
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
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.1164-15C>T rs185613183 0.00044
NM_000019.3(ACAT1):c.*753C>T rs186239800 0.00036
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) rs142869776 0.00019
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=) rs760794308 0.00015
NM_000019.4(ACAT1):c.1164-14T>C rs111849528 0.00012
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000019.4(ACAT1):c.22C>T (p.Leu8=) rs775668624 0.00009
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00008
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) rs200729208 0.00005
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln) rs200498630 0.00005
NM_000019.4(ACAT1):c.1006-17C>G rs1409314804 0.00004
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037 0.00004
NM_000019.4(ACAT1):c.436-5C>T rs369472868 0.00004
NM_000019.4(ACAT1):c.546C>T (p.Asp182=) rs373393997 0.00004
NM_000019.4(ACAT1):c.636C>T (p.Asp212=) rs759659537 0.00004
NM_000019.4(ACAT1):c.730+12G>A rs559179516 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) rs149171104 0.00003
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) rs772625970 0.00003
NM_000019.4(ACAT1):c.105A>G (p.Ser35=) rs1442033328 0.00002
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=) rs1407616925 0.00002
NM_000019.4(ACAT1):c.225C>T (p.Ala75=) rs747201837 0.00002
NM_000019.4(ACAT1):c.288A>G (p.Gln96=) rs969770311 0.00002
NM_000019.4(ACAT1):c.342T>A (p.Pro114=) rs941750006 0.00002
NM_000019.4(ACAT1):c.436-7T>C rs775534544 0.00002
NM_000019.4(ACAT1):c.579+11T>C rs1191067994 0.00002
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010 0.00002
NM_000019.4(ACAT1):c.941-9T>G rs980651269 0.00002
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=) rs1453736760 0.00001
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=) rs756978324 0.00001
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=) rs778512952 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=) rs1382129086 0.00001
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=) rs1430318016 0.00001
NM_000019.4(ACAT1):c.129C>T (p.Val43=) rs773917391 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) rs1380608828 0.00001
NM_000019.4(ACAT1):c.348T>C (p.Ser116=) rs372836412 0.00001
NM_000019.4(ACAT1):c.354A>G (p.Pro118=) rs762367702 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.438T>C (p.Asp146=) rs1447450319 0.00001
NM_000019.4(ACAT1):c.477T>G (p.Val159=) rs1200544048 0.00001
NM_000019.4(ACAT1):c.48C>T (p.Ser16=) rs1196108614 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.627T>C (p.Asn209=) rs771160678 0.00001
NM_000019.4(ACAT1):c.699T>C (p.Asn233=) rs1409696819 0.00001
NM_000019.4(ACAT1):c.72+13C>T rs780504384 0.00001
NM_000019.4(ACAT1):c.759T>C (p.Asp253=) rs983216159 0.00001
NM_000019.4(ACAT1):c.864T>C (p.Asp288=) rs747272327 0.00001
NM_000019.4(ACAT1):c.867A>C (p.Gly289=) rs201725995 0.00001
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.1005+11A>C
NM_000019.4(ACAT1):c.1005+11A>T
NM_000019.4(ACAT1):c.1005+19G>A rs1239413602
NM_000019.4(ACAT1):c.1005+19G>T
NM_000019.4(ACAT1):c.1005+20C>T
NM_000019.4(ACAT1):c.1005+20dup
NM_000019.4(ACAT1):c.1006-15T>C
NM_000019.4(ACAT1):c.1006-16T>C
NM_000019.4(ACAT1):c.1006-17C>A
NM_000019.4(ACAT1):c.1006-18T>A
NM_000019.4(ACAT1):c.1006-18T>C
NM_000019.4(ACAT1):c.1006-21C>A
NM_000019.4(ACAT1):c.1006-4T>G
NM_000019.4(ACAT1):c.1006-7A>T
NM_000019.4(ACAT1):c.1006-8A>C
NM_000019.4(ACAT1):c.1020G>A (p.Val340=) rs2077705283
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=) rs2134791187
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=) rs1591374629
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) rs928429664
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=) rs751682437
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=) rs2134791835
NM_000019.4(ACAT1):c.1163+11A>G
NM_000019.4(ACAT1):c.1163+14A>G
NM_000019.4(ACAT1):c.1163+15_1163+17del rs748465398
NM_000019.4(ACAT1):c.1163+16_1163+18del
NM_000019.4(ACAT1):c.1163+18C>T
NM_000019.4(ACAT1):c.1163+19T>G
NM_000019.4(ACAT1):c.1163+20A>C
NM_000019.4(ACAT1):c.1163+20A>G
NM_000019.4(ACAT1):c.1164-11C>T
NM_000019.4(ACAT1):c.1164-17T>C
NM_000019.4(ACAT1):c.1164-4T>C
NM_000019.4(ACAT1):c.1164-4T>G
NM_000019.4(ACAT1):c.1164-7A>C
NM_000019.4(ACAT1):c.1164-8_1164-4dup
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
NM_000019.4(ACAT1):c.120+17G>A
NM_000019.4(ACAT1):c.120+20C>G
NM_000019.4(ACAT1):c.120+20C>T
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
NM_000019.4(ACAT1):c.121-12G>A
NM_000019.4(ACAT1):c.121-19C>T
NM_000019.4(ACAT1):c.121-8C>T
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=) rs1218523313
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=) rs2077740550
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=) rs2134798301
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
NM_000019.4(ACAT1):c.126G>T (p.Val42=) rs2135334412
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=) rs201500937
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
NM_000019.4(ACAT1):c.174C>T (p.Ser58=) rs147018814
NM_000019.4(ACAT1):c.177T>G (p.Leu59=) rs2135334620
NM_000019.4(ACAT1):c.180C>G (p.Ser60=) rs1246350270
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=) rs2135334679
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
NM_000019.4(ACAT1):c.238+11A>G
NM_000019.4(ACAT1):c.238+13T>C
NM_000019.4(ACAT1):c.238+20T>C
NM_000019.4(ACAT1):c.238+20T>G
NM_000019.4(ACAT1):c.238+8G>T rs2135334879
NM_000019.4(ACAT1):c.239-13T>G
NM_000019.4(ACAT1):c.239-17_239-16insC
NM_000019.4(ACAT1):c.239-6dup rs2077417137
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
NM_000019.4(ACAT1):c.264A>G (p.Glu88=) rs1406647087
NM_000019.4(ACAT1):c.267A>C (p.Ala89=) rs1380608828
NM_000019.4(ACAT1):c.27C>T (p.Arg9=) rs1437592865
NM_000019.4(ACAT1):c.291A>C (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
NM_000019.4(ACAT1):c.312A>G (p.Thr104=) rs2135336378
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) rs2135336464
NM_000019.4(ACAT1):c.334+16T>C
NM_000019.4(ACAT1):c.334+18_334+19del
NM_000019.4(ACAT1):c.334+19T>G
NM_000019.4(ACAT1):c.334+8G>A rs1336705723
NM_000019.4(ACAT1):c.335-12T>C
NM_000019.4(ACAT1):c.335-16C>T
NM_000019.4(ACAT1):c.335-19T>C
NM_000019.4(ACAT1):c.335-20G>A
NM_000019.4(ACAT1):c.335-20G>C
NM_000019.4(ACAT1):c.335-4T>G
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) rs2135341517
NM_000019.4(ACAT1):c.36C>G (p.Ala12=) rs1333520451
NM_000019.4(ACAT1):c.36C>T (p.Ala12=) rs1333520451
NM_000019.4(ACAT1):c.375T>C (p.Val125=) rs767382364
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
NM_000019.4(ACAT1):c.399C>T (p.Ile133=) rs2135341722
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=) rs1436280151
NM_000019.4(ACAT1):c.435+11C>T
NM_000019.4(ACAT1):c.435+12C>T
NM_000019.4(ACAT1):c.435+13G>A
NM_000019.4(ACAT1):c.435+19C>T
NM_000019.4(ACAT1):c.435+20C>T
NM_000019.4(ACAT1):c.436-12G>A
NM_000019.4(ACAT1):c.436-13T>C
NM_000019.4(ACAT1):c.436-14G>A
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-8C>T rs2135355544
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
NM_000019.4(ACAT1):c.45C>T (p.Arg15=) rs2135283693
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.492C>T (p.Asn164=) rs2135356062
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
NM_000019.4(ACAT1):c.513T>C (p.Gly171=) rs1388288534
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
NM_000019.4(ACAT1):c.51C>G (p.Pro17=) rs765733417
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) rs2135356370
NM_000019.4(ACAT1):c.579+17G>T
NM_000019.4(ACAT1):c.579+7G>A
NM_000019.4(ACAT1):c.57C>A (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.57C>T (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.580-14C>A
NM_000019.4(ACAT1):c.580-5dup rs2134760866
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.580-8T>C
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
NM_000019.4(ACAT1):c.633G>A (p.Gln211=) rs2134761170
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=) rs761282960
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
NM_000019.4(ACAT1):c.666T>C (p.Ser222=) rs2134761387
NM_000019.4(ACAT1):c.681A>G (p.Glu227=) rs2134761453
NM_000019.4(ACAT1):c.684T>C (p.Ala228=) rs2134761476
NM_000019.4(ACAT1):c.72+10G>A
NM_000019.4(ACAT1):c.72+10G>T rs1324987267
NM_000019.4(ACAT1):c.72+15T>A
NM_000019.4(ACAT1):c.72+17C>T
NM_000019.4(ACAT1):c.72+19C>T
NM_000019.4(ACAT1):c.72+8G>C
NM_000019.4(ACAT1):c.73-10T>C
NM_000019.4(ACAT1):c.73-10T>G
NM_000019.4(ACAT1):c.73-13A>G
NM_000019.4(ACAT1):c.73-16_73-13del rs764584922
NM_000019.4(ACAT1):c.73-17_73-12del
NM_000019.4(ACAT1):c.73-18T>C
NM_000019.4(ACAT1):c.73-20_73-18del rs761134266
NM_000019.4(ACAT1):c.73-9A>G
NM_000019.4(ACAT1):c.730+8T>G rs1203808396
NM_000019.4(ACAT1):c.731-10_731-8del
NM_000019.4(ACAT1):c.731-20T>C
NM_000019.4(ACAT1):c.731-20T>G
NM_000019.4(ACAT1):c.731-6T>C rs574669264
NM_000019.4(ACAT1):c.732T>A (p.Gly244=) rs2134768518
NM_000019.4(ACAT1):c.738A>G (p.Pro246=) rs2134768546
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
NM_000019.4(ACAT1):c.774T>G (p.Arg258=) rs778592070
NM_000019.4(ACAT1):c.777T>C (p.Val259=) rs2134768842
NM_000019.4(ACAT1):c.807A>G (p.Thr269=) rs2134768930
NM_000019.4(ACAT1):c.810T>C (p.Val270=) rs768923639
NM_000019.4(ACAT1):c.826+10A>G
NM_000019.4(ACAT1):c.826+15A>G
NM_000019.4(ACAT1):c.826+16T>C
NM_000019.4(ACAT1):c.826+19A>C
NM_000019.4(ACAT1):c.826+20G>A
NM_000019.4(ACAT1):c.826+7G>A
NM_000019.4(ACAT1):c.827-12T>G rs2134772377
NM_000019.4(ACAT1):c.827-16T>A
NM_000019.4(ACAT1):c.827-16T>C
NM_000019.4(ACAT1):c.827-16_827-15del
NM_000019.4(ACAT1):c.827-17C>G
NM_000019.4(ACAT1):c.827-18C>A
NM_000019.4(ACAT1):c.831A>G (p.Thr277=) rs2077608173
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) rs2134772561
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
NM_000019.4(ACAT1):c.903G>T (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
NM_000019.4(ACAT1):c.915T>C (p.Asn305=) rs2134773010
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
NM_000019.4(ACAT1):c.940+12C>A
NM_000019.4(ACAT1):c.940+12C>G
NM_000019.4(ACAT1):c.940+13G>A
NM_000019.4(ACAT1):c.940+14_940+18del
NM_000019.4(ACAT1):c.940+15G>A
NM_000019.4(ACAT1):c.940+15_940+25del
NM_000019.4(ACAT1):c.940+16_940+20del rs2134773385
NM_000019.4(ACAT1):c.940+20C>G
NM_000019.4(ACAT1):c.940+7C>G
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13del
NM_000019.4(ACAT1):c.941-15C>A
NM_000019.4(ACAT1):c.941-15C>G
NM_000019.4(ACAT1):c.941-15C>T rs759374737
NM_000019.4(ACAT1):c.941-16C>A
NM_000019.4(ACAT1):c.941-16C>G rs770980645
NM_000019.4(ACAT1):c.941-16C>T
NM_000019.4(ACAT1):c.941-16_941-15insA
NM_000019.4(ACAT1):c.941-17C>A
NM_000019.4(ACAT1):c.941-17C>G
NM_000019.4(ACAT1):c.941-18C>G
NM_000019.4(ACAT1):c.941-18C>T
NM_000019.4(ACAT1):c.941-18_941-17insG
NM_000019.4(ACAT1):c.941-19C>T
NM_000019.4(ACAT1):c.941-20C>A
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
NM_000019.4(ACAT1):c.984T>A (p.Ala328=) rs745826234
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
NM_000019.4(ACAT1):c.996T>C (p.Ala332=) rs2134780546
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
NM_000019.4(ACAT1):c.9G>A (p.Val3=)

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