ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from Paris Brain Institute, Inserm - ICM

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: 2
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723

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