ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 11 by GeneReviews

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs) rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538

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