ClinVar Miner

List of variants in gene CPT2 reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 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.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle) rs751090469 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.850C>T (p.Pro284Ser) rs201163382 0.00009
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
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.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 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.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.1081G>A (p.Ala361Thr) rs755500312 0.00004
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 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.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.1336G>A (p.Val446Ile) rs555126720 0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.1901G>A (p.Arg634Gln) rs375766702 0.00003
NM_000098.3(CPT2):c.655C>T (p.Arg219Trp) rs367691827 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000098.3(CPT2):c.1079T>C (p.Ile360Thr) rs752737849 0.00002
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.1460A>C (p.Glu487Ala) rs368132822 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.340+10C>G rs781682674 0.00002
NM_000098.3(CPT2):c.340+6T>C rs375378513 0.00002
NM_000098.3(CPT2):c.531C>A (p.His177Gln) rs1446192074 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.1225A>G (p.Thr409Ala) rs772572668 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln) rs1557719450 0.00001
NM_000098.3(CPT2):c.1750C>T (p.His584Tyr) rs781418379 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1871A>G (p.Asn624Ser) rs1268248169 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.1940T>C (p.Met647Thr) rs747723963 0.00001
NM_000098.3(CPT2):c.499C>T (p.Arg167Trp) rs780940242 0.00001
NM_000098.3(CPT2):c.616C>G (p.Leu206Val) rs1317020699 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.698A>G (p.Glu233Gly) rs144805101 0.00001
NM_000098.3(CPT2):c.755A>G (p.Tyr252Cys) rs1282285790 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.959C>T (p.Ser320Leu) rs763703786 0.00001
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.1157A>C (p.Glu386Ala) rs1468591138
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.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1752C>A (p.His584Gln) rs1645442414
NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn) rs369202713
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.747A>G (p.Gly249=) rs752139090
NM_000098.3(CPT2):c.755A>T (p.Tyr252Phe) rs1282285790

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.