ClinVar Miner

List of variants studied for Spinocerebellar ataxia, autosomal recessive 31 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001349232.2(ATG7):c.1478A>G (p.Lys493Arg) rs146006185 0.00002
NM_001349232.2(ATG7):c.1186G>A (p.Val396Met) rs2471087263
NM_001349232.2(ATG7):c.1532G>C (p.Gly511Ala) rs2152811529
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349232.2(ATG7):c.280G>A (p.Glu94Lys)
NM_001349232.2(ATG7):c.899A>T (p.Lys300Ile) rs1953406261

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