ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 7 by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.89+1G>A rs1855631590

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