ClinVar Miner

List of variants reported as likely pathogenic for Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 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.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs) rs1553169720
NM_000098.3(CPT2):c.1025_1028dup (p.His344fs)
NM_000098.3(CPT2):c.1291_1292del (p.Lys431fs)
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs) rs1557718075
NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter) rs1446745791
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys) rs749895856
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1646-2A>T
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter) rs1553170005
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.340+5G>A
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.870C>G (p.Tyr290Ter)
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716

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