ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "likely pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)

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