ClinVar Miner

List of variants in gene FIG4 reported as pathogenic for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1801del (p.Thr601fs) rs1777638564
NM_014845.6(FIG4):c.2247dup (p.Ser750fs) rs767193357
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383

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