ClinVar Miner

List of variants studied for Spinocerebellar ataxia, autosomal recessive 21

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Total variants: 12
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HGVS dbSNP
NM_020680.4(SCYL1):c.1386+1G>T
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs) rs864309665
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_020680.4(SCYL1):c.2267G>C (p.Gly756Ala)
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter)
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271
NM_020680.4(SCYL1):c.804G>A (p.Met268Ile)

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