ClinVar Miner

List of variants reported as pathogenic for Carnitine palmitoyltransferase II deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15
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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.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.1369A>T (p.Lys457Ter) rs756931329 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.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591

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