ClinVar Miner

List of variants studied for Infantile onset spinocerebellar ataxia by King Laboratory, University of Washington

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)	rs374997012	0.00001
NM_021830.5(TWNK):c.333del (p.Leu112fs)	rs886037832

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