ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_006946.4(SPTBN2):c.657-47G>A rs615536 0.89277
NM_006946.4(SPTBN2):c.2816+23A>G rs532439 0.72382
NM_006946.4(SPTBN2):c.309+36T>C rs12805133

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