ClinVar Miner

Variants in gene CPT1A with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=) rs150792109
NM_001876.4(CPT1A):c.2235+4T>C rs755308448
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) rs139789100

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