ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 4 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_015046.7(SETX):c.5548+19A>G rs201294921 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_015046.7(SETX):c.6936-11A>G rs146193654 0.00129
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala) rs369470593 0.00026
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00022
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.498+14T>C rs753336459 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met) rs140892948 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly) rs371687197 0.00008
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00008
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.1690T>G (p.Leu564Val) rs761877146 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) rs181158146 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val) rs376524608 0.00006
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr) rs202121071 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.93A>G (p.Gln31=) rs201795631 0.00006
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile) rs61745659 0.00005
NM_015046.7(SETX):c.718+14C>A rs762900574 0.00005
NM_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 0.00005
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 0.00004
NM_015046.7(SETX):c.2234G>A (p.Arg745His) rs373933140 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr) rs760535401 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.77C>T (p.Pro26Leu) rs377617692 0.00004
NM_015046.7(SETX):c.986G>A (p.Arg329Gln) rs376077293 0.00004
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.2924C>T (p.Thr975Met) rs200722368 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe) rs139559547 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00003
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) rs772017103 0.00003
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala) rs372993859 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala) rs1481664998 0.00002
NM_015046.7(SETX):c.2395C>T (p.His799Tyr) rs200459144 0.00002
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) rs765768857 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu) rs773081186 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr) rs202047872 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.477T>A (p.Phe159Leu) rs1473646250 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1714C>G (p.Leu572Val) rs1482836809 0.00001
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys) rs773035724 0.00001
NM_015046.7(SETX):c.1889C>T (p.Thr630Met) rs749132753 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.208A>G (p.Ile70Val) rs747469176 0.00001
NM_015046.7(SETX):c.2119A>G (p.Ile707Val) rs1419145387 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2427C>G (p.Ile809Met) rs765654690 0.00001
NM_015046.7(SETX):c.245G>A (p.Gly82Glu) rs201864041 0.00001
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala) rs1375463032 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.301A>G (p.Ile101Val) rs376848704 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile) rs773068299 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp) rs200072123 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp) rs375796832 0.00001
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe) rs750526955 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val) rs558075773 0.00001
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys) rs752179261 0.00001
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser) rs567825753 0.00001
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys) rs762808367 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr) rs766799310 0.00001
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu) rs1249423284 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg) rs377620145 0.00001
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser) rs747493129 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val) rs546932016 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.64G>A (p.Ala22Thr) rs756600708 0.00001
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu) rs752107891 0.00001
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met) rs201629099 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg) rs755711135 0.00001
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg) rs756715534 0.00001
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser) rs1240232139 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala) rs905773255 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val) rs144706487 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.808A>G (p.Ile270Val) rs1387745582 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.964G>A (p.Ala322Thr) rs540348550 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
NM_015046.7(SETX):c.1576A>G (p.Met526Val) rs762013471
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
NM_015046.7(SETX):c.2267A>T (p.Glu756Val) rs202036078
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
NM_015046.7(SETX):c.2415C>T (p.Val805=)
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys) rs544815791
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
NM_015046.7(SETX):c.2988A>G (p.Arg996=) rs1358681495
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly) rs768510428
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser) rs545072717
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala) rs141996565
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn) rs149558692
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu) rs776238150
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg) rs150918808
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
NM_015046.7(SETX):c.5275-14del rs761232500
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) rs761031238
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
NM_015046.7(SETX):c.6209-19dup
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
NM_015046.7(SETX):c.6325-5dup
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
NM_015046.7(SETX):c.667C>G (p.Leu223Val) rs774068411
NM_015046.7(SETX):c.682A>G (p.Met228Val)
NM_015046.7(SETX):c.6842+11dup
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val) rs1402767850
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
NM_015046.7(SETX):c.7810G>A (p.Val2604Met) rs757554863
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
NM_015046.7(SETX):c.896G>A (p.Arg299His)
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.