ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia type 5 by 3billion

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)	rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337

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