ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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