List of variants reported as pathogenic for autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016614.3(TDP2):c.425+1G>A	rs372245668	0.00003
NM_014687.4(RUBCN):c.2624del (p.Ala875fs)	rs587777235
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)	rs587777127
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr)	rs587777128
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter)	rs879255601

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