ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase II deficiency, myopathic form by NeuroMeGen, Hospital Clinico Santiago de Compostela

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)	rs1557718075

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