ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia type 5 by Institute of Human Genetics, University of Leipzig Medical Center

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.157+5G>A	rs150159444	0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)	rs143155918	0.00075
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)	rs1940076270

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