ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 10 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.206T>A (p.Leu69Ter) rs2149481901

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