List of variants reported as pathogenic for spinocerebellar ataxia 48 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005861.4(STUB1):c.673C>T (p.Arg225Ter)	rs1395191127	0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)	rs748984540	0.00001
NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)	rs2151504209
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser)	rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs)	rs754446573
NM_005861.4(STUB1):c.791_792del (p.Val264fs)	rs1732133553
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs)	rs2039704195
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)	rs2039634238

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