ClinVar Miner

List of variants in gene FIG4 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_014845.5(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) rs774799167
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937

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