ClinVar Miner

List of variants studied for Spinocerebellar ataxia 47 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001020658.2(PUM1):c.1444G>A (p.Ala482Thr) rs1017436032
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter) rs1639458746
NM_001020658.2(PUM1):c.50C>T (p.Ser17Phe)
NM_001020658.2(PUM1):c.949A>C (p.Asn317His) rs2124486243

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