ClinVar Miner

List of variants in gene FIG4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.2097-243A>C rs9386845 0.84807
NM_014845.6(FIG4):c.1434+238T>C rs6912209 0.80995
NM_014845.6(FIG4):c.289+331G>A rs7771150 0.80802
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_014845.6(FIG4):c.1949-308G>A rs9386844 0.49237
NM_014845.6(FIG4):c.2180+63G>T rs9384723 0.47367
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.876+126T>G rs1322124 0.33319
NM_014845.6(FIG4):c.775+298G>A rs12201444 0.33071
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_014845.6(FIG4):c.447-119T>G rs11153215 0.33044
NM_014845.6(FIG4):c.1272-238C>T rs7756284 0.30924
NM_014845.6(FIG4):c.1584-317T>C rs17612996 0.30919
NM_014845.6(FIG4):c.165+100A>T rs6924436 0.30601
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_014845.6(FIG4):c.1434+181G>T rs13196280 0.22195
NM_014845.6(FIG4):c.1271+32G>A rs9481003 0.16771
NM_014845.6(FIG4):c.1040-98T>G rs2295836 0.10591
NM_014845.6(FIG4):c.1584-84T>A rs9386842 0.10591
NM_014845.6(FIG4):c.1584-315G>A rs13437149 0.10589
NM_014845.6(FIG4):c.1434+72A>G rs9372226 0.10572
NM_014845.6(FIG4):c.67-165T>C rs7742066 0.08878
NM_014845.6(FIG4):c.2460-127C>T rs7744512 0.08821
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_014845.6(FIG4):c.2460-252A>G rs72944977 0.06797
NM_014845.6(FIG4):c.1890-101G>T rs9487217 0.06791
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.1138-175G>T rs80101079 0.04763
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.1751-334T>A rs111505237 0.02829
NM_014845.6(FIG4):c.497+227T>A rs75592319 0.02557
NM_014845.6(FIG4):c.1435-256T>C rs75356913 0.02327
NM_014845.6(FIG4):c.776-96G>T rs17070915 0.02324
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.289+151A>G rs114545793 0.02247
NM_014845.6(FIG4):c.497+246T>C rs75723400 0.02192
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NC_000006.12:g.109825565A>G rs76385456 0.02142
NM_014845.6(FIG4):c.2460-38C>T rs11963787 0.01718
NM_014845.6(FIG4):c.1949-121G>A rs56981194 0.01709
NM_014845.6(FIG4):c.1948+56T>C rs11961813 0.01707
NM_014845.6(FIG4):c.2097-217C>T rs78154984 0.01518
NM_014845.6(FIG4):c.2546+158C>T rs7745191 0.01508
NM_014845.6(FIG4):c.2459+22A>G rs192209196 0.01394
NM_014845.6(FIG4):c.1949-148A>G rs115395338 0.01355
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_014845.6(FIG4):c.776-270C>T rs112727135 0.01149
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_014845.6(FIG4):c.1434+54G>A rs57159750 0.01033
NM_014845.6(FIG4):c.497+61G>A rs115467680 0.00992
NM_014845.6(FIG4):c.1138-284A>G rs111341099 0.00891
NM_014845.6(FIG4):c.497+175A>T rs111759494 0.00875
NM_014845.6(FIG4):c.1584-30A>C rs116602685 0.00742
NM_014845.6(FIG4):c.498-87T>C rs112790444 0.00683
NM_014845.6(FIG4):c.1138-291G>A rs113252524 0.00678
NM_014845.6(FIG4):c.1751-294A>G rs59852203 0.00670
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_014845.6(FIG4):c.2377-71T>G rs186543204 0.00563
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_014845.6(FIG4):c.498-145A>G rs192762300 0.00456
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_014845.6(FIG4):c.1389-209T>G rs148001811 0.00366
NM_014845.6(FIG4):c.647-48C>T rs114219763 0.00352
NM_014845.6(FIG4):c.1889+309T>C rs182955642 0.00305
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) rs138376077 0.00031
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
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.1138-45A>T rs201459736 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014845.6(FIG4):c.2459+7T>G rs575271308 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys) rs143184413 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_014845.6(FIG4):c.918C>T (p.Cys306=) rs369159531 0.00008
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.2154A>G (p.Pro718=) rs201138266 0.00006
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.1341T>C (p.Phe447=) rs199651811 0.00005
NM_014845.6(FIG4):c.1890-17T>A rs201890605 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.1040-4T>C rs374343214 0.00004
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu) rs769415369 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) rs770831509 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00004
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp) rs188910818 0.00003
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2388A>G (p.Gln796=) rs1439788451 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys) rs769125243 0.00003
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) rs746367416 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982 0.00002
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val) rs781056036 0.00002
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly) rs533419433 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_014845.6(FIG4):c.1051G>C (p.Asp351His) rs879253941 0.00001
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr) rs376772954 0.00001
NM_014845.6(FIG4):c.1137+5G>T rs746766125 0.00001
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala) rs142463699 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1389-5C>T rs377752443 0.00001
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter) rs1228223508 0.00001
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) rs749233172 0.00001
NM_014845.6(FIG4):c.180A>G (p.Gln60=) rs376730932 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter) rs774799167 0.00001
NM_014845.6(FIG4):c.2238G>A (p.Pro746=) rs753867543 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) rs774546266 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) rs768384237 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.300G>A (p.Arg100=) rs368831195 0.00001
NM_014845.6(FIG4):c.309A>C (p.Glu103Asp) rs151070087 0.00001
NM_014845.6(FIG4):c.396G>A (p.Met132Ile) rs1775847696 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) rs770528195 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) rs1045259801 0.00001
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) rs370148297 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_014845.6(FIG4):c.863G>T (p.Gly288Val) rs1057519188 0.00001
NM_014845.6(FIG4):c.876+8G>A rs923581334 0.00001
GRCh37/hg19 6q21(chr6:110113784-110113868)x0
GRCh37/hg19 6q21(chr6:110113784-110113868)x1
GRCh37/hg19 6q21(chr6:110141405-110220627)x1
NC_000006.12:g.109877842C>T
NM_014845.6(FIG4):c.1137+10G>A rs1583671962
NM_014845.6(FIG4):c.1137+111G>A rs9374117
NM_014845.6(FIG4):c.1137+3A>G rs1776397988
NM_014845.6(FIG4):c.1137+77_1137+79del rs149608939
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter) rs879253926
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1255G>T (p.Ala419Ser)
NM_014845.6(FIG4):c.1263T>A (p.Tyr421Ter)
NM_014845.6(FIG4):c.1331del (p.Thr444fs) rs1583697607
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu) rs1583699947
NM_014845.6(FIG4):c.1435-117TTTTTG[5] rs71018366
NM_014845.6(FIG4):c.1435-117TTTTTG[7] rs71018366
NM_014845.6(FIG4):c.1435-117TTTTTG[8] rs71018366
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.1584-1G>T
NM_014845.6(FIG4):c.1589_1590del (p.Leu529_Phe530insTer)
NM_014845.6(FIG4):c.1602T>C (p.Tyr534=) rs1583703907
NM_014845.6(FIG4):c.1610A>C (p.His537Pro)
NM_014845.6(FIG4):c.165+228C>T rs73535344
NM_014845.6(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.6(FIG4):c.1693C>T (p.Gln565Ter)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser) rs868101103
NM_014845.6(FIG4):c.1703A>G (p.Lys568Arg) rs1064797016
NM_014845.6(FIG4):c.1750+1del rs764770160
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu) rs754127221
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1889+1G>T
NM_014845.6(FIG4):c.1948+1G>A
NM_014845.6(FIG4):c.1948+5G>T rs756884619
NM_014845.6(FIG4):c.1970_1973del (p.Lys657fs)
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2145G>A (p.Val715=) rs1583738268
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) rs199801181
NM_014845.6(FIG4):c.2155G>T (p.Asp719Tyr) rs2128396850
NM_014845.6(FIG4):c.2157_2158insA (p.Glu720fs) rs1778083045
NM_014845.6(FIG4):c.2188dup (p.Ser730fs) rs1778129968
NM_014845.6(FIG4):c.218G>A (p.Gly73Glu) rs1583643080
NM_014845.6(FIG4):c.2243C>G (p.Pro748Arg) rs2128397260
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs) rs750712213
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) rs1778137467
NM_014845.6(FIG4):c.2377-10del rs200535694
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2459+59C>T rs77634668
NM_014845.6(FIG4):c.2459+90_2459+91del rs34998755
NM_014845.6(FIG4):c.2459+91del rs34998755
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
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.2623A>T (p.Ile875Phe)
NM_014845.6(FIG4):c.263G>A (p.Arg88Gln) rs879254310
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
NM_014845.6(FIG4):c.289+280A>G rs73535347
NM_014845.6(FIG4):c.290-147C>T rs6921615
NM_014845.6(FIG4):c.295G>T (p.Val99Phe) rs756709973
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs) rs1562648414
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) rs571563767
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter) rs1175493477
NM_014845.6(FIG4):c.503G>C (p.Ser168Thr)
NM_014845.6(FIG4):c.506A>C (p.Tyr169Ser) rs770278572
NM_014845.6(FIG4):c.57G>A (p.Glu19=) rs2128375315
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.6(FIG4):c.644G>A (p.Ser215Asn)
NM_014845.6(FIG4):c.646G>A (p.Gly216Arg)
NM_014845.6(FIG4):c.711A>G (p.Ile237Met)
NM_014845.6(FIG4):c.718del (p.Ser240fs) rs1776224762
NM_014845.6(FIG4):c.743T>C (p.Leu248Ser)
NM_014845.6(FIG4):c.744G>A (p.Leu248=) rs76125290
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
NM_014845.6(FIG4):c.790G>A (p.Gly264Arg)
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.6(FIG4):c.837dup (p.Ala280fs)
NM_014845.6(FIG4):c.847C>T (p.Arg283Cys)
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.6(FIG4):c.858A>G (p.Lys286=)
NM_014845.6(FIG4):c.868A>G (p.Asn290Asp)
NM_014845.6(FIG4):c.877-54_877-50del rs57291908
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
NM_014845.6(FIG4):c.964G>T (p.Val322Leu)
NM_014845.6(FIG4):c.987C>T (p.Pro329=)

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