ClinVar Miner

List of variants studied for Infantile onset spinocerebellar ataxia by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)	rs386834146	0.00001
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)	rs386834145
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)	rs386834147

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