List of variants in gene CPT2 reported as pathogenic for Carnitine palmitoyl transferase II deficiency, myopathic form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000098.3(CPT2):c.534_539del (p.Leu178_Pro180delinsPhe)	rs772240606	0.00004
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.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.1239_1240del (p.Lys414fs)	rs397509431
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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