ClinVar Miner

List of variants in gene CPT1A reported as uncertain significance for Carnitine palmitoyl transferase 1A deficiency

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Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=) rs150792109 0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu) rs41302429 0.00029
NM_001876.4(CPT1A):c.693+7C>T rs370181471 0.00026
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser) rs1046804 0.00020
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser) rs555444012 0.00016
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe) rs150459546 0.00009
NM_001876.4(CPT1A):c.2028+7C>G rs768465007 0.00009
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.176C>T (p.Pro59Leu) rs201762212 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_001876.4(CPT1A):c.434G>A (p.Arg145His) rs373015421 0.00005
NM_001876.4(CPT1A):c.-6C>G rs561418145 0.00004
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile) rs112620511 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met) rs142473901 0.00004
NM_001876.4(CPT1A):c.2235+4T>C rs755308448 0.00004
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu) rs900349852 0.00004
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys) rs774388890 0.00004
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln) rs536671702 0.00004
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=) rs573112017 0.00003
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln) rs751235722 0.00003
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp) rs373344573 0.00003
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met) rs747835344 0.00002
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn) rs200893871 0.00002
NM_001876.4(CPT1A):c.388C>T (p.Leu130Phe) rs1212436657 0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=) rs751979703 0.00002
NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu) rs561244283 0.00002
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg) rs767491846 0.00002
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser) rs141191480 0.00002
NM_001876.4(CPT1A):c.893G>T (p.Gly298Val) rs1310052561 0.00002
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.1054C>T (p.Arg352Trp) rs376844032 0.00001
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.1465A>G (p.Met489Val) rs1027117038 0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=) rs760474415 0.00001
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile) rs764692013 0.00001
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe) rs1484699196 0.00001
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu) rs776782808 0.00001
NM_001876.4(CPT1A):c.1877T>C (p.Val626Ala) rs768746064 0.00001
NM_001876.4(CPT1A):c.1933C>T (p.Arg645Cys) rs367840385 0.00001
NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile) rs1369067061 0.00001
NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser) rs760769734 0.00001
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val) rs748174436 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp) rs574346392 0.00001
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr) rs201446439 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser) rs773497434 0.00001
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser) rs1309112630 0.00001
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile) rs760683406 0.00001
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) rs759188040 0.00001
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr) rs1306340710 0.00001
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys) rs780487379 0.00001
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr) rs775746905 0.00001
NM_001876.4(CPT1A):c.968-11G>A rs755131342 0.00001
NC_000011.9:g.(?_68579885)_(68582942_?)dup
NC_000011.9:g.(?_68582782)_(68582962_?)dup
NM_001876.4(CPT1A):c.-6C>A rs561418145
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1018G>A (p.Gly340Arg) rs2153998408
NM_001876.4(CPT1A):c.1033G>A (p.Val345Ile)
NM_001876.4(CPT1A):c.1046A>G (p.His349Arg)
NM_001876.4(CPT1A):c.1070G>A (p.Arg357Gln)
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1153G>A (p.Ala385Thr)
NM_001876.4(CPT1A):c.1160A>T (p.Asp387Val)
NM_001876.4(CPT1A):c.1163+4C>T
NM_001876.4(CPT1A):c.1163+5G>T
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1386C>A (p.Phe462Leu) rs2153997779
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe) rs1315026195
NM_001876.4(CPT1A):c.141+6C>G rs1856354034
NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val) rs2153997775
NM_001876.4(CPT1A):c.1441G>A (p.Val481Met)
NM_001876.4(CPT1A):c.1459T>G (p.Tyr487Asp) rs985269276
NM_001876.4(CPT1A):c.1471A>G (p.Ile491Val)
NM_001876.4(CPT1A):c.1474G>C (p.Asp492His)
NM_001876.4(CPT1A):c.1485G>T (p.Gln495His)
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1528C>A (p.Pro510Thr)
NM_001876.4(CPT1A):c.1528C>G (p.Pro510Ala)
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser) rs1279443212
NM_001876.4(CPT1A):c.1534A>G (p.Ile512Val)
NM_001876.4(CPT1A):c.1538C>T (p.Pro513Leu)
NM_001876.4(CPT1A):c.1567C>G (p.Pro523Ala) rs1855114160
NM_001876.4(CPT1A):c.1568C>G (p.Pro523Arg)
NM_001876.4(CPT1A):c.1568C>T (p.Pro523Leu)
NM_001876.4(CPT1A):c.1575+517_1575+521dup rs1169875761
NM_001876.4(CPT1A):c.1575A>G (p.Glu525=)
NM_001876.4(CPT1A):c.1595C>A (p.Thr532Asn)
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro) rs1855050882
NM_001876.4(CPT1A):c.1600C>G (p.Leu534Val)
NM_001876.4(CPT1A):c.160G>A (p.Val54Met) rs147389938
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1630G>A (p.Val544Met) rs2153996787
NM_001876.4(CPT1A):c.163T>C (p.Tyr55His)
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=) rs1314725177
NM_001876.4(CPT1A):c.1658C>T (p.Ala553Val) rs2153996784
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp) rs1566348991
NM_001876.4(CPT1A):c.1675A>G (p.Ile559Val) rs1413070376
NM_001876.4(CPT1A):c.1685G>C (p.Cys562Ser)
NM_001876.4(CPT1A):c.1688G>A (p.Arg563His)
NM_001876.4(CPT1A):c.1688G>T (p.Arg563Leu)
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile) rs200826577
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=) rs1855045353
NM_001876.4(CPT1A):c.1745T>G (p.Met582Arg) rs369312504
NM_001876.4(CPT1A):c.1768G>A (p.Glu590Lys)
NM_001876.4(CPT1A):c.1775C>T (p.Ser592Phe)
NM_001876.4(CPT1A):c.1784G>A (p.Arg595Gln)
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln) rs878856345
NM_001876.4(CPT1A):c.1799G>C (p.Gly600Ala) rs1173933704
NM_001876.4(CPT1A):c.1817G>A (p.Arg606His)
NM_001876.4(CPT1A):c.1875+5T>C
NM_001876.4(CPT1A):c.1901A>G (p.Lys634Arg) rs1854622463
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val) rs775438656
NM_001876.4(CPT1A):c.1909T>G (p.Ser637Ala)
NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys) rs1854621732
NM_001876.4(CPT1A):c.1939G>A (p.Ala647Thr)
NM_001876.4(CPT1A):c.193G>A (p.Val65Met)
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del) rs1555232255
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn) rs1417413074
NM_001876.4(CPT1A):c.1963C>G (p.Arg655Gly)
NM_001876.4(CPT1A):c.1963C>T (p.Arg655Cys)
NM_001876.4(CPT1A):c.1967A>G (p.His656Arg) rs1261847888
NM_001876.4(CPT1A):c.1970T>C (p.Leu657Pro) rs1854618343
NM_001876.4(CPT1A):c.1984G>A (p.Val662Met)
NM_001876.4(CPT1A):c.2005G>T (p.Val669Leu) rs2153994987
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=) rs755323437
NM_001876.4(CPT1A):c.2029-3T>C
NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly) rs1264713147
NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser) rs2153994789
NM_001876.4(CPT1A):c.2099A>G (p.Glu700Gly)
NM_001876.4(CPT1A):c.2107C>A (p.Pro703Thr)
NM_001876.4(CPT1A):c.2108C>T (p.Pro703Leu)
NM_001876.4(CPT1A):c.211A>G (p.Thr71Ala)
NM_001876.4(CPT1A):c.2122A>G (p.Ser708Gly)
NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg) rs773748237
NM_001876.4(CPT1A):c.2125G>A (p.Gly709Arg)
NM_001876.4(CPT1A):c.2138G>T (p.Gly713Val)
NM_001876.4(CPT1A):c.2142+6T>C rs777779540
NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)
NM_001876.4(CPT1A):c.2197A>G (p.Asn733Asp)
NM_001876.4(CPT1A):c.221_241del (p.Tyr74_Ser80del) rs1856241184
NM_001876.4(CPT1A):c.2235+9G>A rs1946761066
NM_001876.4(CPT1A):c.2236-1G>A rs1555226004
NM_001876.4(CPT1A):c.2236G>T (p.Asp746Tyr)
NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu) rs2153994514
NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)
NM_001876.4(CPT1A):c.2260C>A (p.Leu754Met)
NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)
NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu) rs1946717191
NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)
NM_001876.4(CPT1A):c.239C>T (p.Ser80Leu)
NM_001876.4(CPT1A):c.244G>A (p.Gly82Arg) rs2154001160
NM_001876.4(CPT1A):c.251T>C (p.Ile84Thr)
NM_001876.4(CPT1A):c.277A>C (p.Thr93Pro) rs2154001156
NM_001876.4(CPT1A):c.278C>T (p.Thr93Met)
NM_001876.4(CPT1A):c.281C>T (p.Ala94Val)
NM_001876.4(CPT1A):c.289A>G (p.Met97Val)
NM_001876.4(CPT1A):c.290T>C (p.Met97Thr)
NM_001876.4(CPT1A):c.304A>C (p.Lys102Gln)
NM_001876.4(CPT1A):c.310G>A (p.Val104Met)
NM_001876.4(CPT1A):c.398A>C (p.His133Pro) rs2154000819
NM_001876.4(CPT1A):c.400G>A (p.Gly134Arg)
NM_001876.4(CPT1A):c.418C>T (p.His140Tyr)
NM_001876.4(CPT1A):c.433C>G (p.Arg145Gly)
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys) rs763241992
NM_001876.4(CPT1A):c.446T>C (p.Ile149Thr)
NM_001876.4(CPT1A):c.454-2A>G
NM_001876.4(CPT1A):c.457A>G (p.Met153Val)
NM_001876.4(CPT1A):c.459G>A (p.Met153Ile)
NM_001876.4(CPT1A):c.479G>A (p.Arg160Gln)
NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu) rs747575697
NM_001876.4(CPT1A):c.491T>C (p.Leu164Ser) rs2154000557
NM_001876.4(CPT1A):c.530C>T (p.Pro177Leu)
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001876.4(CPT1A):c.555+6T>C
NM_001876.4(CPT1A):c.602G>A (p.Arg201Gln)
NM_001876.4(CPT1A):c.620A>G (p.Gln207Arg) rs1855839019
NM_001876.4(CPT1A):c.647G>A (p.Arg216Lys) rs955789237
NM_001876.4(CPT1A):c.683C>G (p.Ala228Gly)
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001876.4(CPT1A):c.74A>G (p.His25Arg)
NM_001876.4(CPT1A):c.772G>T (p.Asp258Tyr)
NM_001876.4(CPT1A):c.811A>G (p.Arg271Gly)
NM_001876.4(CPT1A):c.814G>A (p.Ala272Thr)
NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)
NM_001876.4(CPT1A):c.841C>G (p.Leu281Val)
NM_001876.4(CPT1A):c.851G>T (p.Arg284Leu)
NM_001876.4(CPT1A):c.862C>T (p.Arg288Trp)
NM_001876.4(CPT1A):c.879A>G (p.Pro293=)
NM_001876.4(CPT1A):c.884G>A (p.Arg295His)
NM_001876.4(CPT1A):c.892G>A (p.Gly298Arg)
NM_001876.4(CPT1A):c.896C>G (p.Ser299Cys)
NM_001876.4(CPT1A):c.899C>T (p.Thr300Met)
NM_001876.4(CPT1A):c.917C>T (p.Ala306Val)
NM_001876.4(CPT1A):c.927G>T (p.Glu309Asp)
NM_001876.4(CPT1A):c.928C>T (p.Arg310Trp)
NM_001876.4(CPT1A):c.931A>G (p.Met311Val)
NM_001876.4(CPT1A):c.937A>G (p.Asn313Asp) rs2153999597
NM_001876.4(CPT1A):c.968-3C>G rs1594337667
NM_001876.4(CPT1A):c.986G>A (p.Arg329Lys)
NM_001876.4(CPT1A):c.991A>G (p.Ser331Gly)

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