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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)	rs61761068	0.00859
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)	rs121434379	0.00003
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	rs119467003	0.00002
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)	rs121434376	0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)	rs121434380	0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)	rs29001665	0.00001
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys)	rs961876891	0.00001
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)	rs121434381
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)	rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)	rs587776536
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)	rs587776537
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)	rs28940290
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	rs780572767
NM_023077.3(COA7):c.247+1G>T	rs1197945739
NM_023077.3(COA7):c.431del (p.Gly144fs)	rs1558102464
NM_023077.3(COA7):c.446G>T (p.Ser149Ile)	rs1558102448

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