ClinVar Miner

List of variants studied for Carnitine palmitoyltransferase II deficiency, infantile by OMIM

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Total variants: 6
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HGVS dbSNP
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674

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