ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase II deficiency, severe infantile form by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320

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