ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 23 by O&I group, Department of Genetics, University Medical Center of Groningen

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024411.5(PDYN):c.635G>A (p.Arg212Gln) rs138498390 0.00008
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser) rs267606940 0.00001

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