List of variants reported as pathogenic for Infantile onset spinocerebellar ataxia

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Total variants: 11

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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
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)	rs80356544	0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)	rs386834146	0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)	rs80356542	0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)	rs863223919	0.00001
NM_014889.4(PITRM1):c.2236-1dup	rs2132393459
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)	rs28937887
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)	rs2493642676
NM_021830.5(TWNK):c.333del (p.Leu112fs)	rs886037832
NM_021830.5(TWNK):c.49del (p.Leu17fs)	rs779142717

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