List of variants reported as pathogenic for autosomal dominant cerebellar ataxia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001020658.2(PUM1):c.213dup (p.Ala72fs)	rs2124008285
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	rs606231451
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	rs121908217
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	rs755221106
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771

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