List of variants reported as pathogenic for Spinocerebellar ataxia type 5 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)	rs397514749
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	rs1554985851
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp)	rs1941485201
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro)	rs121918306

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