ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) rs1583695317
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs) rs1583695328
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) rs776090013
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) rs770831509
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1949-15C>T rs778444771
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.447-16G>T rs200890189
NM_014845.5(FIG4):c.647-18C>A rs2273752
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.877-2A>C rs143956557
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) rs776185371
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
NM_014845.6(FIG4):c.1949-10T>G
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2180+20C>T
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
NM_014845.6(FIG4):c.2376+2T>C rs756308787
NM_014845.6(FIG4):c.2377-18T>C
NM_014845.6(FIG4):c.2377-19T>C
NM_014845.6(FIG4):c.2377-20_2377-19insC
NM_014845.6(FIG4):c.2377-20_2377-19insCT
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.446+32dup
NM_014845.6(FIG4):c.447-16delinsTT
NM_014845.6(FIG4):c.447-17dup
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup
NM_014845.6(FIG4):c.498-13A>G
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) rs1583663645
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014845.6(FIG4):c.66+18G>A
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)

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