ClinVar Miner

List of variants reported for Carnitine palmitoyl transferase 1A deficiency by Natera, Inc.

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.240G>A (p.Ser80=) rs61731904 0.02145
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) rs115731492 0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=) rs2228503 0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=) rs111407620 0.00743
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu) rs61731906 0.00724
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
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.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=) rs188173541 0.00053
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
NM_001876.4(CPT1A):c.492G>A (p.Leu164=) rs200836324 0.00034
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=) rs755323437 0.00033
NM_001876.4(CPT1A):c.693+7C>T rs370181471 0.00026
NM_001876.4(CPT1A):c.171A>G (p.Ala57=) rs758539295 0.00024
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
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.1092G>A (p.Gln364=) rs199640034 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_001876.4(CPT1A):c.390C>T (p.Leu130=) rs188016546 0.00010
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.1083G>A (p.Gln361=) rs761229343 0.00006
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.1845C>T (p.Phe615=) rs144747588 0.00006
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=) rs200501379 0.00006
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
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.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.2235+4T>C rs755308448 0.00003
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln) rs751235722 0.00003
NM_001876.4(CPT1A):c.518G>A (p.Arg173His) rs199589844 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.1257G>A (p.Thr419=) rs764443409 0.00002
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=) rs140332936 0.00002
NM_001876.4(CPT1A):c.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn) rs200893871 0.00002
NM_001876.4(CPT1A):c.303G>A (p.Thr101=) rs553777167 0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=) rs751979703 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.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala) rs889632692 0.00001
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile) rs1198520664 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.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.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.319G>A (p.Gly107Ser) rs773497434 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.916G>A (p.Ala306Thr) rs775746905 0.00001
NM_001876.4(CPT1A):c.-6C>A rs561418145
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter) rs1435045544
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe) rs1315026195
NM_001876.4(CPT1A):c.1459-6dup rs767372374
NM_001876.4(CPT1A):c.1575+517_1575+521dup rs1169875761
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro) rs1855050882
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=) rs1314725177
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.1793G>A (p.Arg598Gln) rs878856345
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.2013C>A (p.Ser671=) rs755323437
NM_001876.4(CPT1A):c.2142+6T>C rs777779540
NM_001876.4(CPT1A):c.2235+9G>A rs1946761066
NM_001876.4(CPT1A):c.309C>T (p.Asn103=) rs200536266
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys) rs763241992
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
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.693+1G>A rs1055176086
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290

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