ClinVar Miner

List of variants reported as likely pathogenic for Carnitine palmitoyltransferase II deficiency

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu) rs751557097 0.00003
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925 0.00002
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.1223_1224del (p.Ser408fs) rs752373512
NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys) rs749895856
NM_000098.3(CPT2):c.148C>T (p.Pro50Ser)
NM_000098.3(CPT2):c.152+1G>T rs2100255111
NM_000098.3(CPT2):c.1547T>C (p.Phe516Ser) rs398123154
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1595_1601del (p.Met532fs) rs1572385973
NM_000098.3(CPT2):c.1799G>A (p.Gly600Glu)
NM_000098.3(CPT2):c.340+1G>A rs2100261957
NM_000098.3(CPT2):c.340+1G>C
NM_000098.3(CPT2):c.340+5G>A
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.886C>G (p.Arg296Gly)
NM_000098.3(CPT2):c.887G>C (p.Arg296Pro) rs764849762
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) rs515726175

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