ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 16 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu) rs755346712 0.00001
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu) rs2151504534
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter) rs776620952

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