ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 14 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.1843C>T (p.Arg615Trp)	rs1207850001	0.00001
NM_006946.4(SPTBN2):c.157+1G>A	rs2135558909

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