ClinVar Miner

List of variants in gene combination LOC109504727, LOC130065308, NOP56 reported as pathogenic for Spinocerebellar ataxia type 36

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?] rs1555779353

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