ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 2 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855

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