ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866

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