ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia 47 by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu) rs779524509

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