ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form by Myriad Genetics, Inc.

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Total variants: 5
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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
NM_000098.3(CPT2):c.149_150del (p.Pro50fs)
NM_000098.3(CPT2):c.150del (p.Arg51fs)
NM_000098.3(CPT2):c.187A>T (p.Arg63Ter)

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