ClinVar Miner

List of variants reported as pathogenic for Infantile onset spinocerebellar ataxia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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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.1196A>G (p.Asn399Ser)	rs863223921	0.00001

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