List of variants in gene CPT2 studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 134

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)	rs1799821	0.46024
NC_000001.11:g.53196294G>A	rs10888776	0.45575
NM_000098.3(CPT2):c.153-283T>C	rs12754957	0.25450
NM_000098.3(CPT2):c.341-155T>C	rs12737375	0.25426
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)	rs1799822	0.15237
NM_000098.3(CPT2):c.340+122T>A	rs145446223	0.02297
NM_000098.3(CPT2):c.511C>T (p.Leu171=)	rs2229292	0.02118
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)	rs2229291	0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)	rs77565483	0.01032
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)	rs75939866	0.00675
NM_000098.3(CPT2):c.340+121G>A	rs729227	0.00462
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)	rs113493395	0.00455
NC_000001.11:g.53196246C>G	rs143388468	0.00453
NM_000098.3(CPT2):c.*22A>T	rs115408040	0.00446
NM_000098.3(CPT2):c.*75T>C	rs6702020	0.00446
NM_000098.3(CPT2):c.152+182C>T	rs116571455	0.00446
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)	rs1871748	0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)	rs147953465	0.00245
NM_000098.3(CPT2):c.341-16T>C	rs180830030	0.00176
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.1372A>C (p.Lys458Gln)	rs147276580	0.00085
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)	rs148035648	0.00085
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)	rs17848485	0.00067
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)	rs144703247	0.00048
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.1602G>A (p.Glu534=)	rs148110518	0.00037
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.1422C>A (p.Ala474=)	rs192779168	0.00024
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.1342T>C (p.Phe448Leu)	rs74315297	0.00021
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.218A>G (p.Asn73Ser)	rs146159244	0.00016
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe)	rs192275019	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.200C>G (p.Ala67Gly)	rs201966320	0.00006
NM_000098.3(CPT2):c.201A>C (p.Ala67=)	rs747516495	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.1189G>A (p.Val397Ile)	rs201745292	0.00004
NM_000098.3(CPT2):c.1312A>G (p.Met438Val)	rs374201361	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.379G>A (p.Val127Ile)	rs199545795	0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	rs373638740	0.00004
NM_000098.3(CPT2):c.800C>T (p.Ser267Leu)	rs751888992	0.00004
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	rs368311455	0.00003
NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu)	rs776754218	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.985G>T (p.Asp329Tyr)	rs750191719	0.00003
NM_000098.3(CPT2):c.1228G>A (p.Val410Ile)	rs746567260	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.1886C>T (p.Pro629Leu)	rs767530116	0.00002
NM_000098.3(CPT2):c.188G>A (p.Arg63Lys)	rs748182542	0.00002
NM_000098.3(CPT2):c.1049G>A (p.Arg350His)	rs773966429	0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)	rs756931329	0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=)	rs548364005	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	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.1891C>T (p.Arg631Cys)	rs74315293	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.461A>G (p.Asn154Ser)	rs772269793	0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)	rs756839691	0.00001
NM_000098.3(CPT2):c.587C>T (p.Pro196Leu)	rs758823353	0.00001
NM_000098.3(CPT2):c.623A>G (p.Asn208Ser)	rs1274903903	0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His)	rs794727616	0.00001
NM_000098.3(CPT2):c.984T>A (p.Asp328Glu)	rs1408974808	0.00001
NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly)	rs151003641
NM_000098.3(CPT2):c.1099_1100del (p.Ala367fs)	rs2100273520
NM_000098.3(CPT2):c.1119_1120del (p.Trp374fs)	rs2100273567
NM_000098.3(CPT2):c.1122G>A (p.Trp374Ter)
NM_000098.3(CPT2):c.1230C>G (p.Val410=)	rs996410960
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	rs397509431
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	rs1131691330
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)	rs1057517492
NM_000098.3(CPT2):c.1393G>A (p.Ala465Thr)
NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)
NM_000098.3(CPT2):c.1512G>T (p.Pro504=)	rs150953507
NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr)	rs1490239014
NM_000098.3(CPT2):c.1547T>C (p.Phe516Ser)	rs398123154
NM_000098.3(CPT2):c.1585C>T (p.Gln529Ter)	rs1645426286
NM_000098.3(CPT2):c.1604G>A (p.Cys535Tyr)
NM_000098.3(CPT2):c.1645+128A>C	rs80332673
NM_000098.3(CPT2):c.1645+212G>A	rs115905875
NM_000098.3(CPT2):c.1645+292_1645+299del	rs112026378
NM_000098.3(CPT2):c.1645+299dup	rs112026378
NM_000098.3(CPT2):c.1646-11G>A	rs781302472
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg)	rs2100259793
NM_000098.3(CPT2):c.1654T>C (p.Phe552Leu)	rs1557719426
NM_000098.3(CPT2):c.1675C>G (p.Leu559Val)	rs1557719466
NM_000098.3(CPT2):c.1718T>G (p.Leu573Arg)	rs1557719507
NM_000098.3(CPT2):c.1757T>A (p.Val586Asp)	rs2100278492
NM_000098.3(CPT2):c.1769G>A (p.Ser590Asn)
NM_000098.3(CPT2):c.1784del (p.Pro595fs)	rs760255368
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)	rs1645443275
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)	rs908749525
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	rs780286639
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys)	rs766154734
NM_000098.3(CPT2):c.202C>T (p.Gln68Ter)	rs771406546
NM_000098.3(CPT2):c.284T>C (p.Leu95Pro)
NM_000098.3(CPT2):c.340+120C>T	rs41294754
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter)	rs1645411052
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro)	rs1131691925
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)	rs141505320
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)	rs515726173
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)	rs375968699
NM_000098.3(CPT2):c.578G>A (p.Arg193His)	rs765824169
NM_000098.3(CPT2):c.606T>C (p.Tyr202=)	rs755830520
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
NM_000098.3(CPT2):c.701T>C (p.Leu234Pro)
NM_000098.3(CPT2):c.707C>T (p.Thr236Ile)	rs1645414982
NM_000098.3(CPT2):c.852del (p.Glu285fs)	rs1057517729
NM_000098.3(CPT2):c.878G>T (p.Ser293Ile)
NM_000098.3(CPT2):c.953T>G (p.Val318Gly)	rs727503888

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