ClinVar Miner

List of variants studied for Dentatorubral-pallidoluysian atrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NG_008047.1:g.17267CAG[(54-68)]
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55]) rs60216939
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
Single allele

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