ClinVar Miner

List of variants reported as pathogenic for Spinocerebellar ataxia type 21

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) rs606231454 0.00003
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) rs606231455 0.00002
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter) rs606231452
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451

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