ClinVar Miner

List of variants reported as pathogenic for Infantile onset spinocerebellar ataxia by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)	rs80356544	0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)	rs80356542	0.00001

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