ClinVar Miner

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

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Total variants: 14
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HGVS dbSNP
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) rs1554303811
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter)
NM_014845.5(FIG4):c.1986dup (p.Lys663fs)
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs)
NM_014845.5(FIG4):c.877-2A>C

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