ClinVar Miner

List of variants reported as pathogenic for Infantile onset spinocerebellar ataxia by IRCCS Fondazione Stella Maris, University of Pisa

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_014889.4(PITRM1):c.2236-1dup rs2132393459

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