ClinVar Miner

List of variants in gene CPT2, LOC129930561 studied 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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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.149_150del (p.Pro50fs)
NM_000098.3(CPT2):c.150del (p.Arg51fs)

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