ClinVar Miner

List of variants in gene FIG4 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
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.1666dup (p.Thr556fs) rs772320287
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.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.718del (p.Ser240fs)

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