ClinVar Miner

Variants in gene CPT1A with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796

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