ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 23 by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698

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