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	0.73006
NM_006946.4(SPTBN2):c.309+36T>C	rs12805133

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