ClinVar Miner

List of variants in gene CPT2 reported as pathogenic for carnitine palmitoyl transferase II deficiency, severe infantile form

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
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.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674

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