ClinVar Miner

List of variants reported as pathogenic for Infantile onset spinocerebellar ataxia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)

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