ClinVar Miner

List of variants in gene FIG4 studied for Amyotrophic lateral sclerosis

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Total variants: 14
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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.422G>A (p.Arg141Gln) rs762663195 0.00004
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) rs750102036 0.00003
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) rs749233172 0.00001
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro) rs397514707 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014845.6(FIG4):c.1162A>G (p.Arg388Gly)
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.143A>G (p.Asp48Gly)
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp) rs397509395
NM_014845.6(FIG4):c.67-1G>T
NM_014845.6(FIG4):c.837T>G (p.Phe279Leu)

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