ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 15/16 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)	rs2093873570	0.00001
NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)

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