List of variants reported as pathogenic for Amyotrophic lateral sclerosis type 11

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	rs121908287	0.00117
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)	rs753207473	0.00004
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	rs121908288	0.00001
NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)
NM_014845.6(FIG4):c.1150del (p.Arg384fs)	rs1583695322
NM_014845.6(FIG4):c.1388+5G>T	rs200730266
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)	rs121908290
NM_014845.6(FIG4):c.759del (p.Phe254fs)	rs764717219

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