ClinVar Miner

List of variants studied for Carnitine palmitoyltransferase II deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2
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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.149C>A (p.Pro50His) rs28936375 0.00022

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