ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4

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ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) rs151003641 0.00025
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019 0.00014
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) rs375109382 0.00013
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000098.3(CPT2):c.-282C>T rs886046402 0.00009
NM_000098.3(CPT2):c.850C>T (p.Pro284Ser) rs201163382 0.00009
NM_000098.3(CPT2):c.1232C>T (p.Thr411Met) rs375957043 0.00006
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1312A>G (p.Met438Val) rs374201361 0.00004
NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) rs555126720 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 0.00004
NM_000098.3(CPT2):c.1451C>G (p.Ala484Gly) rs374183980 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.379G>A (p.Val127Ile) rs199545795 0.00004
NM_000098.3(CPT2):c.455C>G (p.Ala152Gly) rs755331246 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000098.3(CPT2):c.800C>T (p.Ser267Leu) rs751888992 0.00004
NM_000098.3(CPT2):c.103C>T (p.Leu35=) rs2929073 0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) rs373714948 0.00003
NM_000098.3(CPT2):c.333C>T (p.Tyr111=) rs372313619 0.00003
NM_000098.3(CPT2):c.611C>T (p.Ala204Val) rs867555821 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.1313T>A (p.Met438Lys) rs377616144 0.00002
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000098.3(CPT2):c.1661G>A (p.Arg554Gln) rs367796030 0.00002
NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu) rs767530116 0.00002
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1290T>C (p.Ala430=) rs776488578 0.00001
NM_000098.3(CPT2):c.135C>T (p.Tyr45=) rs1645327989 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) rs756414686 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.222T>C (p.Asp74=) rs1360477206 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.378C>T (p.Ser126=) rs780743357 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.468T>C (p.Thr156=) rs138938770 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.619G>A (p.Val207Ile) rs1016498296 0.00001
NM_000098.3(CPT2):c.626C>T (p.Ala209Val) rs773788921 0.00001
NM_000098.3(CPT2):c.636G>T (p.Leu212=) rs973697337 0.00001
NM_000098.3(CPT2):c.656G>A (p.Arg219Gln) rs920941550 0.00001
NM_000098.3(CPT2):c.665A>G (p.Asn222Ser) rs760978599 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.755A>G (p.Tyr252Cys) rs1282285790 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.85T>G (p.Ser29Ala) rs1342928062 0.00001
NM_000098.3(CPT2):c.903G>T (p.Glu301Asp) rs764076288 0.00001
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.1025_1028dup (p.His344fs)
NM_000098.3(CPT2):c.1080C>T (p.Ile360=) rs749833236
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1126G>A (p.Asp376Asn)
NM_000098.3(CPT2):c.1214C>T (p.Thr405Ile)
NM_000098.3(CPT2):c.1226C>T (p.Thr409Ile)
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1252G>A (p.Glu418Lys)
NM_000098.3(CPT2):c.1265C>T (p.Ala422Val)
NM_000098.3(CPT2):c.1291_1292del (p.Lys431fs)
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter) rs1446745791
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1408G>T (p.Ala470Ser) rs756326862
NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)
NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys) rs749895856
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1509C>T (p.Arg503=) rs1572385867
NM_000098.3(CPT2):c.1519G>C (p.Val507Leu)
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1577G>C (p.Gly526Ala)
NM_000098.3(CPT2):c.1591A>T (p.Met531Leu)
NM_000098.3(CPT2):c.15G>C (p.Leu5=) rs1443908294
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1645+14G>T rs2100274977
NM_000098.3(CPT2):c.1646-2A>T
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1651G>C (p.Gly551Arg)
NM_000098.3(CPT2):c.1672G>T (p.Ala558Ser)
NM_000098.3(CPT2):c.1752C>A (p.His584Gln) rs1645442414
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1802G>T (p.Gly601Val) rs2100278707
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1849C>T (p.His617Tyr)
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.340+5G>A
NM_000098.3(CPT2):c.343C>T (p.Pro115Ser)
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.56G>C (p.Gly19Ala)
NM_000098.3(CPT2):c.574A>G (p.Ile192Val)
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.605A>G (p.Tyr202Cys)
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
NM_000098.3(CPT2):c.67C>T (p.Arg23Trp)
NM_000098.3(CPT2):c.709G>A (p.Asp237Asn)
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.727C>T (p.Leu243Phe) rs1421522050
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.787A>C (p.Ile263Leu)
NM_000098.3(CPT2):c.827T>C (p.Ile276Thr)
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.870C>G (p.Tyr290Ter)
NM_000098.3(CPT2):c.919A>T (p.Met307Leu)
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716

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