ClinVar Miner

List of variants in gene CPT2 reported as uncertain significance for Genu valgum; Pes planus; Hyperextensibility of the finger joints; Generalized hypotonia; Myopathic facies; Hyperextensible hand joints; Hyperextensibility at elbow

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) rs150888506 0.00027

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