ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 40 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.3170A>G (p.Asp1057Gly) rs548699524 0.00006
NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser) rs368545314 0.00004
NM_001080414.4(CCDC88C):c.3020G>A (p.Cys1007Tyr) rs917595672 0.00001
NM_001080414.4(CCDC88C):c.932A>G (p.Tyr311Cys) rs751049970 0.00001
NM_001080414.4(CCDC88C):c.2845G>A (p.Asp949Asn)

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