ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia and "likely pathogenic" from any submitter

Minimum review status of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia: Collection method of the submission from Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_025137.4(SPG11):c.6205+1G>A rs753650233 0.00001
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101

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