ClinVar Miner

List of variants studied for Dentatorubral-pallidoluysian atrophy by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939

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