ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic for Spinocerebellar ataxia, autosomal recessive 8

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Total variants: 6
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HGVS dbSNP
NM_033071.3(SYNE1):c.1954-2A>G rs1554753528
NM_033071.3(SYNE1):c.3417-10_3417delinsC rs863224929
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859

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