ClinVar Miner

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

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 263
Download table as spreadsheet
HGVS dbSNP
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NC_000006.12:g.(?_109825078)_(109825275_?)del
NC_000006.12:g.109691284C>A
NM_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*150_*151del rs886060986
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-112G>A rs757848529
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-124A>G rs544958043
NM_014845.5(FIG4):c.-132A>G rs548471516
NM_014845.5(FIG4):c.-134C>G rs560811735
NM_014845.5(FIG4):c.-138T>C rs550585093
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.-84A>G rs764845399
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His) rs192324110
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.1187C>G (p.Ala396Gly) rs758599286
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
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.1313A>G (p.Glu438Gly) rs535554973
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly) rs1012991465
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1405G>A (p.Gly469Arg) rs201742496
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr) rs754533235
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) rs776090013
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.1750+3A>G rs758390500
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063
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.1877C>T (p.Pro626Leu) rs772937400
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.1928T>A (p.Leu643Ter) rs1488999396
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.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln) rs192447225
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) rs540674198
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser) rs1237449502
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2181-10C>A rs1583740892
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
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.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.243A>G (p.Lys81=) rs200257799
NM_014845.5(FIG4):c.2459+5G>A rs367944508
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-11A>G rs745613994
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-4A>G rs886060985
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys) rs754970037
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.290-2A>G rs587777715
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.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.33G>C (p.Ser11=) rs527523781
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys) rs145466148
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.447-16G>T rs200890189
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del) rs763532476
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe) rs141116831
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
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.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) rs1583669418
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr) rs766829595
NM_014845.5(FIG4):c.877-2A>C rs143956557
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
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.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
NM_014845.6(FIG4):c.1181_1183TTG[1] (p.Val395del)
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
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.1386A>G (p.Glu462=) rs764699770
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) rs746367416
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
NM_014845.6(FIG4):c.1750+11A>C
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
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.1804G>A (p.Glu602Lys)
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
NM_014845.6(FIG4):c.1889+9C>T
NM_014845.6(FIG4):c.1949-10T>G
NM_014845.6(FIG4):c.1986dup (p.Lys663fs) rs1197741113
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
NM_014845.6(FIG4):c.2096+3A>G
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.2222C>T (p.Thr741Met)
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
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.2329A>C (p.Thr777Pro)
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.2403A>G (p.Leu801=)
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) rs765557108
NM_014845.6(FIG4):c.2429_2430TC[1] (p.Ser811fs)
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
NM_014845.6(FIG4):c.2546+5G>C
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) rs1583785957
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
NM_014845.6(FIG4):c.289+10C>A rs778732368
NM_014845.6(FIG4):c.289+17C>T
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
NM_014845.6(FIG4):c.351G>A (p.Ala117=) rs375963892
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
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.447-2A>C
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
NM_014845.6(FIG4):c.498-13A>G
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
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.69A>G (p.Arg23=)
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
NM_014845.6(FIG4):c.876+8G>A rs923581334

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