ClinVar Miner

Variants in gene CAV3 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115

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