List of variants reported as likely pathogenic for autosomal recessive spinocerebellar ataxia 16

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	rs146251364	0.00063
NM_001005920.4(JMJD8):c.*65A>G	rs1555475794
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	rs779647632
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)	rs776620952
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)	rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)	rs760424025
NM_005861.4(STUB1):c.779A>C (p.His260Pro)	rs2151506687

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