ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia, autosomal recessive 24

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762

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