ClinVar Miner

List of variants studied for Infantile onset spinocerebellar ataxia by Baylor Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282

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