ClinVar Miner

List of variants studied for Parkinson disease, late-onset; Spinocerebellar ataxia type 17

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003194.5(TBP):c.228_229del (p.Gln77fs) rs1491487452 0.36909
NM_003194.5(TBP):c.231_243del (p.Gln77fs) rs771725566 0.01524
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788

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