List of variants reported as pathogenic for carnitine palmitoyl transferase II deficiency, myopathic form by OMIM

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Total variants: 10

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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.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	rs74315296	0.00001
NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn)	rs28936376	0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	rs74315293	0.00001
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter)	rs74315299
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	rs28936673
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly)	rs74315300

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