ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 5 by Institute of Human Genetics, University of Leipzig Medical Center

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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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