ClinVar Miner

List of variants in gene FIG4 reported as likely benign for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 313
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.2377-18T>C rs560214203 0.00056
NM_014845.6(FIG4):c.2459+14A>C rs200078556 0.00032
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.1751-16A>G rs200778905 0.00026
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153 0.00022
NM_014845.6(FIG4):c.1479C>G (p.Thr493=) rs144072304 0.00021
NM_014845.6(FIG4):c.2235C>T (p.Ala745=) rs144830399 0.00018
NM_014845.6(FIG4):c.1923G>A (p.Lys641=) rs140078026 0.00012
NM_014845.6(FIG4):c.1305G>C (p.Val435=) rs145227623 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014845.6(FIG4):c.102G>A (p.Thr34=) rs145711919 0.00010
NM_014845.6(FIG4):c.2376+9G>A rs374450869 0.00010
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.717A>G (p.Lys239=) rs750904354 0.00009
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu) rs753543659 0.00008
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 0.00008
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) rs765557108 0.00007
NM_014845.6(FIG4):c.498-13A>G rs199891240 0.00007
NM_014845.6(FIG4):c.66+13dup rs755637236 0.00007
NM_014845.6(FIG4):c.1890-4A>G rs376586317 0.00006
NM_014845.6(FIG4):c.2052C>T (p.Ser684=) rs183958565 0.00006
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.54T>C (p.Tyr18=) rs746307320 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014845.6(FIG4):c.66+8C>T rs768404941 0.00006
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_014845.6(FIG4):c.1435-8C>T rs754607430 0.00005
NM_014845.6(FIG4):c.1584-19C>T rs1052424090 0.00005
NM_014845.6(FIG4):c.1890-17T>A rs201890605 0.00005
NM_014845.6(FIG4):c.2376+8G>A rs779457828 0.00005
NM_014845.6(FIG4):c.669G>A (p.Glu223=) rs764559318 0.00005
NM_014845.6(FIG4):c.1040-4T>C rs374343214 0.00004
NM_014845.6(FIG4):c.1158T>C (p.His386=) rs370557879 0.00004
NM_014845.6(FIG4):c.1386A>G (p.Glu462=) rs764699770 0.00004
NM_014845.6(FIG4):c.15C>T (p.Ala5=) rs917052197 0.00004
NM_014845.6(FIG4):c.2180+20C>T rs372359387 0.00004
NM_014845.6(FIG4):c.2199A>G (p.Glu733=) rs537464083 0.00004
NM_014845.6(FIG4):c.2352A>G (p.Ala784=) rs765278422 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014845.6(FIG4):c.1949-7C>A rs758167651 0.00003
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430 0.00003
NM_014845.6(FIG4):c.2388A>G (p.Gln796=) rs1439788451 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.351G>A (p.Ala117=) rs375963892 0.00003
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) rs746367416 0.00002
NM_014845.6(FIG4):c.1809G>A (p.Gly603=) rs148280593 0.00002
NM_014845.6(FIG4):c.1932A>G (p.Pro644=) rs767919652 0.00002
NM_014845.6(FIG4):c.1949-15C>T rs778444771 0.00002
NM_014845.6(FIG4):c.2377-10T>A rs9481005 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2668C>T (p.Leu890=) rs922260214 0.00002
NM_014845.6(FIG4):c.2685C>T (p.Ser895=) rs764459799 0.00002
NM_014845.6(FIG4):c.289+17C>T rs368282150 0.00002
NM_014845.6(FIG4):c.366T>C (p.His122=) rs772376305 0.00002
NM_014845.6(FIG4):c.447-14_447-13insG rs1312654340 0.00002
NM_014845.6(FIG4):c.447-19T>C rs1562651409 0.00002
NM_014845.6(FIG4):c.497+9G>A rs759409330 0.00002
NM_014845.6(FIG4):c.1116C>T (p.Ile372=) rs754932535 0.00001
NM_014845.6(FIG4):c.1137+14A>G rs1776398818 0.00001
NM_014845.6(FIG4):c.114C>T (p.Val38=) rs765676819 0.00001
NM_014845.6(FIG4):c.1271+7G>A rs1158557424 0.00001
NM_014845.6(FIG4):c.1350C>G (p.Arg450=) rs763035100 0.00001
NM_014845.6(FIG4):c.1389-4A>G rs1234617040 0.00001
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.1434+16C>T rs772128948 0.00001
NM_014845.6(FIG4):c.1434+7A>C rs773157476 0.00001
NM_014845.6(FIG4):c.1525C>T (p.Leu509=) rs146488614 0.00001
NM_014845.6(FIG4):c.1527G>A (p.Leu509=) rs1282869999 0.00001
NM_014845.6(FIG4):c.1584-16G>A rs1223371250 0.00001
NM_014845.6(FIG4):c.1584-9T>C rs748433013 0.00001
NM_014845.6(FIG4):c.1750+11A>C rs766372971 0.00001
NM_014845.6(FIG4):c.1755C>T (p.Ala585=) rs377111248 0.00001
NM_014845.6(FIG4):c.1812A>G (p.Lys604=) rs1399930708 0.00001
NM_014845.6(FIG4):c.1827G>A (p.Glu609=) rs756085095 0.00001
NM_014845.6(FIG4):c.1836A>G (p.Thr612=) rs1267198458 0.00001
NM_014845.6(FIG4):c.1890-18T>A rs769375338 0.00001
NM_014845.6(FIG4):c.2085A>C (p.Thr695=) rs1197412787 0.00001
NM_014845.6(FIG4):c.2096+16T>A rs779641739 0.00001
NM_014845.6(FIG4):c.2115C>T (p.Thr705=) rs201271644 0.00001
NM_014845.6(FIG4):c.2118T>G (p.Val706=) rs780930471 0.00001
NM_014845.6(FIG4):c.2215C>A (p.Arg739=) rs773877685 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_014845.6(FIG4):c.2250C>T (p.Ser750=) rs751694228 0.00001
NM_014845.6(FIG4):c.2289G>A (p.Gly763=) rs756539176 0.00001
NM_014845.6(FIG4):c.2319T>C (p.Ser773=) rs745397940 0.00001
NM_014845.6(FIG4):c.2334C>T (p.Pro778=) rs1183428109 0.00001
NM_014845.6(FIG4):c.2382G>A (p.Val794=) rs1201567620 0.00001
NM_014845.6(FIG4):c.2403A>G (p.Leu801=) rs1048137431 0.00001
NM_014845.6(FIG4):c.2459+6_2459+8dup rs1562687535 0.00001
NM_014845.6(FIG4):c.2460-17T>C rs201533992 0.00001
NM_014845.6(FIG4):c.2470C>T (p.Leu824=) rs1290598433 0.00001
NM_014845.6(FIG4):c.252G>A (p.Ser84=) rs532895784 0.00001
NM_014845.6(FIG4):c.2546+11G>T rs1051662160 0.00001
NM_014845.6(FIG4):c.2547-12C>T rs778747845 0.00001
NM_014845.6(FIG4):c.2640C>T (p.Ile880=) rs769813337 0.00001
NM_014845.6(FIG4):c.289+10C>A rs778732368 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.318T>C (p.Tyr106=) rs1417300017 0.00001
NM_014845.6(FIG4):c.324G>C (p.Val108=) rs1371576818 0.00001
NM_014845.6(FIG4):c.477A>G (p.Leu159=) rs769256280 0.00001
NM_014845.6(FIG4):c.497+14T>G rs756070677 0.00001
NM_014845.6(FIG4):c.66+18G>A rs1381893795 0.00001
NM_014845.6(FIG4):c.876+8G>A rs923581334 0.00001
NM_014845.6(FIG4):c.877-8C>G rs1279902930 0.00001
NM_014845.6(FIG4):c.885T>A (p.Val295=) rs551491783 0.00001
NM_014845.6(FIG4):c.909A>G (p.Gln303=) rs1173352807 0.00001
NM_014845.6(FIG4):c.915C>G (p.Leu305=) rs375022448 0.00001
NM_014845.6(FIG4):c.1039+14T>C
NM_014845.6(FIG4):c.1039+7G>A
NM_014845.6(FIG4):c.1039+8G>A rs2128386984
NM_014845.6(FIG4):c.1040-16C>G
NM_014845.6(FIG4):c.1040-17T>C rs1476656802
NM_014845.6(FIG4):c.1040-18A>G
NM_014845.6(FIG4):c.1065T>C (p.His355=)
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
NM_014845.6(FIG4):c.1137+12T>G
NM_014845.6(FIG4):c.1137+8G>T rs779200387
NM_014845.6(FIG4):c.1138-18G>A
NM_014845.6(FIG4):c.117G>A (p.Leu39=)
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
NM_014845.6(FIG4):c.1271+9T>C rs1336280554
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1272-14C>T
NM_014845.6(FIG4):c.1272-20A>G
NM_014845.6(FIG4):c.1272-8C>T rs1583697467
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
NM_014845.6(FIG4):c.132A>G (p.Thr44=) rs553864727
NM_014845.6(FIG4):c.1374G>A (p.Leu458=)
NM_014845.6(FIG4):c.1377G>T (p.Arg459=) rs2128391467
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
NM_014845.6(FIG4):c.1388+10G>C
NM_014845.6(FIG4):c.1388+7A>G
NM_014845.6(FIG4):c.1389-15T>C
NM_014845.6(FIG4):c.1389-18G>A
NM_014845.6(FIG4):c.1389-19T>G
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
NM_014845.6(FIG4):c.1434+18A>G
NM_014845.6(FIG4):c.1435-4T>G
NM_014845.6(FIG4):c.1435-6C>G
NM_014845.6(FIG4):c.1443C>T (p.Ile481=) rs1583701662
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
NM_014845.6(FIG4):c.1583+20A>C rs377162452
NM_014845.6(FIG4):c.1583+20A>G rs377162452
NM_014845.6(FIG4):c.1583+7C>T
NM_014845.6(FIG4):c.1584-10C>T
NM_014845.6(FIG4):c.1584-10del
NM_014845.6(FIG4):c.1584-14T>G
NM_014845.6(FIG4):c.1584-18G>A
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
NM_014845.6(FIG4):c.165+10C>T
NM_014845.6(FIG4):c.165+17C>T rs1390100492
NM_014845.6(FIG4):c.165+8T>C rs1775391813
NM_014845.6(FIG4):c.166-10T>C
NM_014845.6(FIG4):c.166-11C>G rs200978101
NM_014845.6(FIG4):c.166-16A>T
NM_014845.6(FIG4):c.166-7T>C rs2128381583
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
NM_014845.6(FIG4):c.1710C>T (p.Ile570=)
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=) rs1224727049
NM_014845.6(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.6(FIG4):c.1751-17T>C
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
NM_014845.6(FIG4):c.1885A>C (p.Arg629=)
NM_014845.6(FIG4):c.1889+6_1889+11dup rs762389374
NM_014845.6(FIG4):c.1890-16A>T rs544899373
NM_014845.6(FIG4):c.1890-5T>A
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
NM_014845.6(FIG4):c.1948+10T>C
NM_014845.6(FIG4):c.1948+13_1948+16del
NM_014845.6(FIG4):c.1949-12T>C rs2128396238
NM_014845.6(FIG4):c.1949-16G>T
NM_014845.6(FIG4):c.1949-18A>G
NM_014845.6(FIG4):c.1949-5C>T
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
NM_014845.6(FIG4):c.207C>T (p.Arg69=) rs1583643073
NM_014845.6(FIG4):c.2096+10G>A
NM_014845.6(FIG4):c.2096+10G>T rs1459717981
NM_014845.6(FIG4):c.2096+11T>C
NM_014845.6(FIG4):c.2096+7T>G rs2128396287
NM_014845.6(FIG4):c.2096+8G>A
NM_014845.6(FIG4):c.2096+9T>C rs2128396288
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2097-10C>T rs142482745
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
NM_014845.6(FIG4):c.2157T>C (p.Asp719=) rs2128396853
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
NM_014845.6(FIG4):c.2181-18A>G
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2244C>G (p.Pro748=) rs17854106
NM_014845.6(FIG4):c.2262G>C (p.Val754=) rs2128397273
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
NM_014845.6(FIG4):c.2370G>T (p.Val790=)
NM_014845.6(FIG4):c.2376+13G>A
NM_014845.6(FIG4):c.2376+16G>T rs746479599
NM_014845.6(FIG4):c.2377-12T>C rs2128397495
NM_014845.6(FIG4):c.2377-13_2377-10del
NM_014845.6(FIG4):c.2377-19_2377-18insC
NM_014845.6(FIG4):c.2377-6C>A
NM_014845.6(FIG4):c.2377-7del
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
NM_014845.6(FIG4):c.2459+12T>C
NM_014845.6(FIG4):c.2459+7T>C rs575271308
NM_014845.6(FIG4):c.2459+8A>G
NM_014845.6(FIG4):c.2460-14A>G rs558299221
NM_014845.6(FIG4):c.2460-14A>T rs558299221
NM_014845.6(FIG4):c.2466T>G (p.Val822=) rs2128398444
NM_014845.6(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.6(FIG4):c.2546+10A>G
NM_014845.6(FIG4):c.2546+16G>A
NM_014845.6(FIG4):c.2546+17A>C rs1050332219
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) rs1583785957
NM_014845.6(FIG4):c.2643G>A (p.Gln881=)
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
NM_014845.6(FIG4):c.285T>A (p.Val95=)
NM_014845.6(FIG4):c.289+13C>A
NM_014845.6(FIG4):c.289+13C>T rs1334113726
NM_014845.6(FIG4):c.289+16C>T
NM_014845.6(FIG4):c.289+17C>A rs368282150
NM_014845.6(FIG4):c.289+19T>G
NM_014845.6(FIG4):c.290-20C>T
NM_014845.6(FIG4):c.290-5C>T
NM_014845.6(FIG4):c.290-7del rs2128384000
NM_014845.6(FIG4):c.363T>A (p.Gly121=)
NM_014845.6(FIG4):c.381C>T (p.Val127=)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.423G>A (p.Arg141=) rs766129182
NM_014845.6(FIG4):c.446+16A>G rs1330337335
NM_014845.6(FIG4):c.446+18T>C
NM_014845.6(FIG4):c.446+21dup rs1321436747
NM_014845.6(FIG4):c.447-10_447-9insC rs2128385199
NM_014845.6(FIG4):c.447-15T>G
NM_014845.6(FIG4):c.447-16_447-13del rs753412030
NM_014845.6(FIG4):c.447-16_447-14del
NM_014845.6(FIG4):c.447-16_447-15insCT
NM_014845.6(FIG4):c.447-16del
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-18_447-17del
NM_014845.6(FIG4):c.447-18_447-17dup
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
NM_014845.6(FIG4):c.497+10A>T rs2128385219
NM_014845.6(FIG4):c.498-14A>G
NM_014845.6(FIG4):c.498-15C>A rs2128385652
NM_014845.6(FIG4):c.516C>T (p.Ser172=) rs759246119
NM_014845.6(FIG4):c.528A>G (p.Gln176=) rs1562652753
NM_014845.6(FIG4):c.591C>T (p.Arg197=)
NM_014845.6(FIG4):c.618T>C (p.Asp206=) rs1208786525
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.646+13G>A
NM_014845.6(FIG4):c.646+20C>G
NM_014845.6(FIG4):c.646+7G>T rs2128385685
NM_014845.6(FIG4):c.647-20T>C
NM_014845.6(FIG4):c.66+11C>A
NM_014845.6(FIG4):c.66+14C>T rs1319217856
NM_014845.6(FIG4):c.66+17G>C
NM_014845.6(FIG4):c.66+19C>G
NM_014845.6(FIG4):c.66+20G>C
NM_014845.6(FIG4):c.66+9C>G
NM_014845.6(FIG4):c.67-15C>T
NM_014845.6(FIG4):c.67-18A>G
NM_014845.6(FIG4):c.67-8A>G
NM_014845.6(FIG4):c.684T>C (p.Tyr228=) rs1296081777
NM_014845.6(FIG4):c.69A>G (p.Arg23=) rs1775386908
NM_014845.6(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
NM_014845.6(FIG4):c.762C>T (p.Phe254=) rs201013726
NM_014845.6(FIG4):c.775+10C>T
NM_014845.6(FIG4):c.793C>A (p.Arg265=) rs774294963
NM_014845.6(FIG4):c.811C>T (p.Leu271=) rs1360869637
NM_014845.6(FIG4):c.813A>G (p.Leu271=) rs2128386644
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
NM_014845.6(FIG4):c.843C>T (p.Gly281=) rs1776323553
NM_014845.6(FIG4):c.852T>C (p.Phe284=) rs2128386650
NM_014845.6(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.6(FIG4):c.876+7_876+13dup
NM_014845.6(FIG4):c.877-15C>T
NM_014845.6(FIG4):c.877-7T>C
NM_014845.6(FIG4):c.882T>C (p.Asp294=) rs776821372

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