ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia type 5 by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His)	rs769417045	0.00001
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749

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