ClinVar Miner

List of variants reported as uncertain significance for Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 by Clinical Genetics laboratory, University of Goettingen

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Total variants: 1
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys)

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