ClinVar Miner

List of variants reported as likely benign for cerebellar ataxia by 3billion

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)
NM_016529.6(ATP8A2):c.535G>A (p.Val179Ile)

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