ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1350C>G (p.Arg450=) rs763035100
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.1525C>T (p.Leu509=) rs146488614
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1923G>A (p.Lys641=) rs140078026
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.5(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.762C>T (p.Phe254=) rs201013726
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531

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