List of variants reported as pathogenic for Spinocerebellar ataxia 47

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)	rs771145682	0.00001
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)	rs2124008285
NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)	rs1639458746
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)	rs1557539450

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