ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 12 by Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944

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