ClinVar Miner

List of variants reported as benign for Infantile onset spinocerebellar ataxia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35424
NM_021830.5(TWNK):c.*766A>T rs3740488 0.29073
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08015
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01296

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