ClinVar Miner

List of variants studied for Spinocerebellar ataxia 47 by Illumina Laboratory Services, Illumina

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)	rs1187853515
NM_001020658.2(PUM1):c.896C>A (p.Pro299His)	rs1641834551

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