List of variants studied for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001142633.3(PIK3R5):c.2557C>T (p.Pro853Ser)	rs62620227	0.00280
NM_001142633.3(PIK3R5):c.470G>A (p.Arg157His)	rs144891748	0.00071
NM_023077.3(COA7):c.113A>G (p.Tyr38Cys)	rs753445023	0.00010
NM_001142633.3(PIK3R5):c.1207C>T (p.Pro403Ser)	rs775905402	0.00004
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)	rs370121773	0.00003
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	rs119467003	0.00002
NM_001142633.3(PIK3R5):c.2425G>A (p.Gly809Ser)	rs746906096	0.00001
NM_001142633.3(PIK3R5):c.1634G>A (p.Arg545His)
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr)	rs1844713785
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)	rs797045067
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)	rs797045068
NM_015046.7(SETX):c.6107-7T>A	rs766634428
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)	rs1564492117
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)	rs1564464665
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp)	rs151271332

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