ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine: Collection method of the submission from Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine:
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_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241

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