ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14 by New York Genome Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337

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