ClinVar Miner

List of variants reported as likely pathogenic for Spinocerebellar ataxia type 5 by Institute of Human Genetics Munich, TUM University Hospital

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)	rs541484241
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	rs1554984881

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