ClinVar Miner

List of variants reported as likely pathogenic for SPINOCEREBELLAR ATAXIA 47

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Total variants: 4
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NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_014676.3(PUM1):c.3097A>T (p.Thr1033Ser) rs771145682
NM_014676.3(PUM1):c.3409C>T (p.Arg1137Trp) rs1557541619

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