ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia, autosomal recessive 31

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter) rs201706487 0.00017
NM_001349232.2(ATG7):c.2080-2A>G rs200074530 0.00004
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His) rs142493104 0.00003
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp) rs2152811529
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr) rs777067201
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg) rs2152756968

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