ClinVar Miner

List of variants in gene CPT2 reported as uncertain significance for Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)	rs74315297	0.00021
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	rs764849762	0.00003

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