ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia 47 by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.2337T>C (p.Asn779=)	rs2275741	0.39017
NM_001020658.2(PUM1):c.364-44A>G	rs4949331	0.31144
NM_001020658.2(PUM1):c.3243-46_3243-45del	rs56387244	0.24759

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