ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100

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