List of variants reported as likely pathogenic for Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)	rs183776349	0.00001
NM_015046.7(SETX):c.6208+2dup
NM_015046.7(SETX):c.6842+1G>T	rs1038776365
NM_015046.7(SETX):c.6843-3_6843-1del	rs1186690391
NM_015046.7(SETX):c.7100+2T>C

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