ClinVar Miner

List of variants in gene FIG4 reported as pathogenic for amyotrophic lateral sclerosis type 11

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
FIG4, IVS11DS, G-T, +5
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_014845.5(FIG4):c.262C>T (p.Arg88Ter) rs753207473
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.1150del (p.Arg384fs) rs1583695322

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