ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)	rs764884402	0.00002
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749

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