ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 192
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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.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
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.*1365G>T rs7875801 0.06684
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
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.*351G>T rs117409290 0.01236
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
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.*475A>C rs60760878 0.00452
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.472T>G (p.Leu158Val) rs145438764 0.00347
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.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
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.5271A>G (p.Glu1757=) rs200499115 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.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.5(SETX):c.-190G>A rs1055615359
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041

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