List of variants reported as 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: 12

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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.886C>T (p.Arg296Ter)	rs727503887	0.00003
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)	rs756931329	0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)	rs1557719455	0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	rs74315293	0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	rs397509431
NM_000098.3(CPT2):c.989dup (p.Ile332fs)	rs1553169716

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