ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 14 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) rs1318256630
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter) rs146859515
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs) rs373728971

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