ClinVar Miner

List of variants reported as pathogenic 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: 2

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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.206T>A (p.Leu69Ter)	rs2149481901

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