ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln) rs776892864 0.00001
NM_006946.4(SPTBN2):c.6431C>A (p.Thr2144Lys)

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