ClinVar Miner

List of variants in gene FIG4 studied for Charcot-Marie-Tooth disease

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Gene type:
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Total variants: 24
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HGVS dbSNP
NC_000006.12:g.109732634_109732635insT
NC_000006.12:g.109735269A>G
NC_000006.12:g.109735297C>T
NC_000006.12:g.109743708C>G
NC_000006.12:g.109765052C>T
NC_000006.12:g.109791573T>C
NC_000006.12:g.109825093C>T
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.1880C>A (p.Thr627Lys)
NM_014845.5(FIG4):c.2460-8A>G rs201965891
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
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)

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