ClinVar Miner

List of variants reported as pathogenic for Carnitine palmitoyltransferase II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) rs368132822 0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.152+5G>A rs1397098803 0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln) rs1557719450 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.603G>A (p.Trp201Ter) rs745547578 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) rs766004699 0.00001
NC_000001.10:g.(?_53662606)_(53668111_?)del
NC_000001.10:g.(?_53662616)_(53668121_?)del
NC_000001.11:g.(?_53196934)_(53197105_?)del
NC_000001.11:g.(?_53200709)_(53202439_?)del
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
NM_000098.3(CPT2):c.1052G>A (p.Trp351Ter) rs1645419457
NM_000098.3(CPT2):c.1087dup (p.Asp363fs) rs2100273480
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter)
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
NM_000098.3(CPT2):c.1152_1153insSVAelement
NM_000098.3(CPT2):c.1152del (p.Phe384fs)
NM_000098.3(CPT2):c.1196del (p.Pro399fs)
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1244_1245del (p.Leu415fs) rs1645421667
NM_000098.3(CPT2):c.1273_1274del (p.Thr425fs)
NM_000098.3(CPT2):c.1293_1296del (p.Glu432fs) rs2100274025
NM_000098.3(CPT2):c.1302dup (p.Asp435Ter)
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter) rs1446745791
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.135C>G (p.Tyr45Ter) rs1645327989
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) rs74315299
NM_000098.3(CPT2):c.1394_1403del (p.Ala465fs) rs2100274299
NM_000098.3(CPT2):c.1402C>T (p.Gln468Ter) rs964928101
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
NM_000098.3(CPT2):c.1441C>T (p.Gln481Ter)
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
NM_000098.3(CPT2):c.1444_1645+364del rs1645424505
NM_000098.3(CPT2):c.1459G>T (p.Glu487Ter) rs778743524
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1528_1529del (p.Lys510fs)
NM_000098.3(CPT2):c.1552_1553del (p.Arg518fs) rs2100274755
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1613del (p.Tyr538fs)
NM_000098.3(CPT2):c.164_165del (p.Pro55fs) rs2100259785
NM_000098.3(CPT2):c.1725_1726del (p.Asp576fs) rs1645442171
NM_000098.3(CPT2):c.1737C>A (p.Tyr579Ter)
NM_000098.3(CPT2):c.1767_1777delinsT (p.Ser590fs) rs1553169975
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1798G>A (p.Gly600Arg) rs1645443101
NM_000098.3(CPT2):c.1802dup (p.Phe602fs)
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1886del (p.Pro629fs) rs763889116
NM_000098.3(CPT2):c.188G>T (p.Arg63Ile) rs748182542
NM_000098.3(CPT2):c.1927del (p.Ala643fs) rs2100279176
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.202C>T (p.Gln68Ter) rs771406546
NM_000098.3(CPT2):c.204del (p.Lys69fs) rs1645350030
NM_000098.3(CPT2):c.20dup (p.Arg8fs)
NM_000098.3(CPT2):c.213_214del (p.Leu72fs) rs751253358
NM_000098.3(CPT2):c.215T>A (p.Leu72Ter)
NM_000098.3(CPT2):c.238del (p.Thr80fs) rs2100261764
NM_000098.3(CPT2):c.256_257del (p.Ser86fs) rs1645359135
NM_000098.3(CPT2):c.257del (p.Ser86fs)
NM_000098.3(CPT2):c.298del (p.Val100fs)
NM_000098.3(CPT2):c.320_321del (p.Lys107fs) rs2100261898
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter) rs1645411052
NM_000098.3(CPT2):c.350_354del (p.Phe117fs) rs778895906
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.39_46dup (p.Val16fs) rs2100254713
NM_000098.3(CPT2):c.43_62dup (p.Ser22fs)
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.522del (p.Val175fs) rs2100271968
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.556_557del (p.Ile186fs)
NM_000098.3(CPT2):c.585del (p.Pro196fs) rs1645413342
NM_000098.3(CPT2):c.602G>A (p.Trp201Ter)
NM_000098.3(CPT2):c.612del (p.Tyr205fs)
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly) rs74315300
NM_000098.3(CPT2):c.646C>T (p.Gln216Ter)
NM_000098.3(CPT2):c.669_673del (p.Thr224fs) rs1645414208
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.674_677dup (p.Pro227fs)
NM_000098.3(CPT2):c.721A>T (p.Arg241Ter) rs200252755
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.745G>T (p.Gly249Ter) rs2100272595
NM_000098.3(CPT2):c.747_748insTT (p.Asn250fs) rs2100272626
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.754del (p.Tyr252fs)
NM_000098.3(CPT2):c.790del (p.Ile263_Val264insTer)
NM_000098.3(CPT2):c.798dup (p.Ser267fs) rs2100272735
NM_000098.3(CPT2):c.808C>T (p.Gln270Ter) rs1645416037
NM_000098.3(CPT2):c.834dup (p.Asp279fs) rs2100272823
NM_000098.3(CPT2):c.836_839del (p.Asp279fs) rs1645416288
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.896G>A (p.Trp299Ter) rs757881397
NM_000098.3(CPT2):c.913_1172del (p.Lys305fs)
NM_000098.3(CPT2):c.963del (p.Val322fs)
NM_000098.3(CPT2):c.975_976del (p.Cys326fs)
NM_000098.3(CPT2):c.989del (p.Phe330fs) rs1553169716
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716

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.