List of variants studied for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)	rs1169623576	0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)	rs543247171	0.00001
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)	rs754706851
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)	rs1339011741
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)	rs1160553456
NM_023077.3(COA7):c.97del (p.Asp33fs)

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