ClinVar Miner

List of variants reported for Carnitine palmitoyl transferase II deficiency, severe infantile form by Counsyl

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Total variants: 71
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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.1634A>C (p.Glu545Ala) rs17848485 0.00067
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.1438G>A (p.Gly480Arg) rs201508063 0.00020
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.98del (p.Gln33fs) rs917744011 0.00005
NM_000098.3(CPT2):c.62C>A (p.Pro21His) rs1399429530 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539 0.00004
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.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925 0.00002
NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter) rs1317793581 0.00001
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.1657G>A (p.Asp553Asn) rs28936376 0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs) rs1553169726
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) rs761438840
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) rs1057517507
NM_000098.3(CPT2):c.1360_1362del (p.Glu454del) rs1553169768
NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter) rs1553169771
NM_000098.3(CPT2):c.1404G>T (p.Gln468His) rs140771069
NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter) rs1469108369
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs) rs1553169787
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1563del (p.Arg522fs) rs1229197873
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) rs1057517517
NM_000098.3(CPT2):c.1645+2T>G rs1057517473
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1933dup (p.Glu645fs) rs1553170033
NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter) rs1553170035
NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys) rs1553170038
NM_000098.3(CPT2):c.302del (p.Ala101fs) rs1553169106
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.401_404del (p.Phe134fs) rs1553169598
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) rs1057517510
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.725del (p.His242fs) rs1553169666
NM_000098.3(CPT2):c.72_97del (p.Leu25fs) rs1553168850
NM_000098.3(CPT2):c.739A>T (p.Arg247Trp) rs1360046080
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.879_880del (p.Ser293fs) rs1195259425
NM_000098.3(CPT2):c.95del (p.Gly32fs) rs1057517494
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716

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