ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)
NM_182961.4(SYNE1):c.1933-2A>G rs1554753528
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)
NM_182961.4(SYNE1):c.3396-10_3396delinsC rs863224929
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs) rs797045109
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.888+2T>A

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