ClinVar Miner

List of variants reported as uncertain significance for Carnitine palmitoyltransferase II deficiency, infantile by Baylor Genetics

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Total variants: 4
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NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) rs147276580
NM_000098.3(CPT2):c.379G>A (p.Val127Ile)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128

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