ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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 gnomAD frequency
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723

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