ClinVar Miner

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

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) rs770831509 0.00004
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00004
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213 0.00002
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) rs1376239309 0.00001
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) rs1255518113 0.00001
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter) rs776090013 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) rs776185371
NM_014845.6(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) rs1583695317
NM_014845.6(FIG4):c.1149_1150delinsT (p.Lys383fs) rs1583695328
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) rs1562677647
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) rs1777638116
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) rs754830354
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2376+2T>C rs756308787
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) rs1778168177
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) rs1583663645
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.6(FIG4):c.799G>C (p.Val267Leu) rs1776321116

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