ClinVar Miner

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

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Total variants: 71
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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.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
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.1340G>A (p.Arg447Gln) rs757593086 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.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.176C>T (p.Pro59Leu) rs201762212 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.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn) rs200893871 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.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe) rs1315026195
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.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

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