ClinVar Miner

List of variants reported as pathogenic for Dentatorubral-pallidoluysian atrophy

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NG_008047.1:g.17267CAG[(54-68)]
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])	rs60216939
Single allele

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