ClinVar Miner

List of variants reported as likely pathogenic for Infantile onset spinocerebellar ataxia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)	rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)	rs1366090807
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)	rs753386843

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