ClinVar Miner

List of variants in gene CPT2 reported as uncertain significance for encephalomyelitis

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
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.236A>C (p.Lys79Thr) rs150888506 0.00027
NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) rs151003641 0.00025
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
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.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.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.1858T>C (p.Trp620Arg) rs1040318543 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.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.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu) rs776754218 0.00003
NM_000098.3(CPT2):c.1892G>A (p.Arg631His) rs1009503062 0.00003
NM_000098.3(CPT2):c.1901G>A (p.Arg634Gln) rs375766702 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.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.1228G>A (p.Val410Ile) rs746567260 0.00002
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.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1489G>A (p.Gly497Ser) rs1479961277 0.00002
NM_000098.3(CPT2):c.1492C>T (p.Arg498Cys) rs374308679 0.00002
NM_000098.3(CPT2):c.1645+7C>T rs200596483 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.188G>A (p.Arg63Lys) rs748182542 0.00002
NM_000098.3(CPT2):c.339G>A (p.Ser113=) rs778017005 0.00002
NM_000098.3(CPT2):c.1049G>A (p.Arg350His) rs773966429 0.00001
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.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 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.1897G>T (p.Ala633Ser) rs141903761 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.499C>T (p.Arg167Trp) rs780940242 0.00001
NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) rs758823353 0.00001
NM_000098.3(CPT2):c.619G>A (p.Val207Ile) rs1016498296 0.00001
NM_000098.3(CPT2):c.623A>G (p.Asn208Ser) rs1274903903 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.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.903G>T (p.Glu301Asp) rs764076288 0.00001
NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly) rs151003641
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.1252G>A (p.Glu418Lys)
NM_000098.3(CPT2):c.1265C>T (p.Ala422Val)
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1404G>T (p.Gln468His) rs140771069
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.1519G>C (p.Val507Leu)
NM_000098.3(CPT2):c.1523A>G (p.Tyr508Cys)
NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr) rs1490239014
NM_000098.3(CPT2):c.1577G>C (p.Gly526Ala)
NM_000098.3(CPT2):c.1591A>T (p.Met531Leu)
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.1769G>A (p.Ser590Asn)
NM_000098.3(CPT2):c.1802G>T (p.Gly601Val) rs2100278707
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.1849C>T (p.His617Tyr)
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn) rs369202713
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.343C>T (p.Pro115Ser)
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
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.709G>A (p.Asp237Asn)
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.919A>T (p.Met307Leu)
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888

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