ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_004960.3(FUS):c.*1476T>C rs11860134 0.98998
NM_004960.4(FUS):c.-54A>G rs929867 0.95117
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
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_007126.5(VCP):c.811+3G>A rs514492 0.75591
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_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_199189.2(MATR3):c.-610C>G rs11242456 0.53822
NM_018834.6(MATR3):c.*1288T>G rs10515507 0.51394
NM_018834.6(MATR3):c.*672G>A rs7305 0.50625
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_004738.5(VAPB):c.*5250T>C rs6015274 0.49186
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
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_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_004960.3(FUS):c.*770G>C rs4889537 0.24493
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_004738.5(VAPB):c.*5298C>T rs6015275 0.22495
NM_018325.5(C9orf72):c.*1344C>T rs13691 0.21385
NM_018325.5(C9orf72):c.*1406T>C rs9103 0.20796
NM_018325.5(C9orf72):c.870C>T (p.Ser290=) rs10122902 0.20696
NM_018325.5(C9orf72):c.-27G>A rs10757668 0.20162
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_007126.5(VCP):c.*153G>T rs1053318 0.19091
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_018325.5(C9orf72):c.*921C>A rs3739526 0.18576
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_004738.5(VAPB):c.*4271A>G rs4549163 0.15908
NM_004738.5(VAPB):c.*1282A>G rs1802459 0.15337
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_004738.5(VAPB):c.*937G>C rs1059794 0.11399
NM_001145.4(ANG):c.-332C>A rs28589501 0.10899
NM_004738.5(VAPB):c.*4520T>C rs763514 0.10837
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser) rs17769294 0.09705
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_004738.5(VAPB):c.*1265G>C rs7400 0.09272
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_020919.4(ALS2):c.2796C>T (p.Ser932=) rs3219161 0.08298
NM_004738.5(VAPB):c.*2819A>G rs74568509 0.08036
NM_020919.4(ALS2):c.*1004G>A rs11300 0.07577
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_004738.5(VAPB):c.*4446G>A rs79623348 0.06497
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.3(FUS):c.*1803C>T rs16956408 0.06040
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_004738.5(VAPB):c.*4868C>T rs74748993 0.05916
NM_004738.5(VAPB):c.*4052C>T rs76295834 0.05914
NM_020919.4(ALS2):c.*893C>T rs3219174 0.05509
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_018834.6(MATR3):c.*1259G>C rs62381613 0.04668
NM_018325.5(C9orf72):c.*248T>C rs73440933 0.04662
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_000454.4(SOD1):c.-109A>G rs7277748 0.03982
NM_018834.6(MATR3):c.*177A>G rs13698 0.03913
NM_020919.4(ALS2):c.-95G>C rs77327610 0.03775
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_020919.4(ALS2):c.280A>G (p.Ile94Val) rs3219154 0.03476
NM_018834.6(MATR3):c.*708T>C rs14109 0.03387
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_004960.3(FUS):c.*491T>G rs73530293 0.03268
NM_004960.3(FUS):c.*2486G>A rs73530298 0.03248
NM_004960.3(FUS):c.*2794G>C rs17839571 0.03244
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_018834.6(MATR3):c.*1076T>C rs2015602 0.02638
NM_020919.4(ALS2):c.3885G>A (p.Ala1295=) rs34946105 0.02614
NM_004960.3(FUS):c.*910C>T rs118018900 0.02606
NM_001145.4(ANG):c.-530T>C rs117053048 0.02510
NM_001145.4(ANG):c.-579G>C rs117466368 0.02509
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_001145.4(ANG):c.-401G>T rs45591635 0.02505
NM_002937.5(RNASE4):c.-40T>C rs117978329 0.02505
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_007126.5(VCP):c.*596C>T rs55745923 0.02117
NM_001256054.3(C9orf72):c.-164T>C rs41272893 0.02049
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_004960.3(FUS):c.*2393T>A rs541197027 0.01834
NM_001145.4(ANG):c.-534C>T rs117787610 0.01793
NM_018834.6(MATR3):c.*1278T>C rs116341961 0.01780
NM_004960.3(FUS):c.*989C>T rs114772555 0.01702
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_004738.5(VAPB):c.*4952C>T rs116665485 0.01608
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_004960.3(FUS):c.*1420C>T rs73530295 0.01500
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_018834.6(MATR3):c.*1535A>G rs111689401 0.01322
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_004960.4(FUS):c.-39A>G rs67676356 0.01242
NM_014043.4(CHMP2B):c.-102C>T rs36098294 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_020919.4(ALS2):c.*447G>A rs3219173 0.01169
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_004738.5(VAPB):c.*6182C>T rs76708676 0.01132
NM_018834.6(MATR3):c.*1425C>G rs145516036 0.01098
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_014043.4(CHMP2B):c.*231T>C rs17189270 0.01035
NM_014043.4(CHMP2B):c.-151C>A rs77328592 0.01035
NM_020919.4(ALS2):c.*105A>C rs141509107 0.00995
NM_007126.5(VCP):c.*906A>G rs76360394 0.00965
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_004960.3(FUS):c.*626G>A rs115626460 0.00863
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_020919.4(ALS2):c.*843G>A rs41309062 0.00827
NM_004738.5(VAPB):c.*6088C>T rs147304840 0.00734
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_004738.5(VAPB):c.*753C>G rs6070466 0.00707
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014043.4(CHMP2B):c.*1588C>T rs11426 0.00691
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_018834.6(MATR3):c.*1482A>T rs79616595 0.00669
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_018834.6(MATR3):c.*1087G>C rs116660718 0.00535
NM_004738.5(VAPB):c.*1641G>A rs116584680 0.00529
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00525
NM_004738.5(VAPB):c.*6619G>A rs79091887 0.00520
NM_018325.5(C9orf72):c.*1469T>A rs141012074 0.00519
NM_000454.5(SOD1):c.-48T>A rs142752986 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_004960.3(FUS):c.*1148A>T rs140326191 0.00506
NM_004960.3(FUS):c.*2443A>G rs189787862 0.00503
NM_004738.5(VAPB):c.*995T>G rs76895132 0.00501
NM_020919.4(ALS2):c.4764G>A (p.Ala1588=) rs35110478 0.00499
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_018834.6(MATR3):c.*275C>T rs187985845 0.00426
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_018834.6(MATR3):c.*496C>T rs140707719 0.00411
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_018834.6(MATR3):c.*747G>C rs181792838 0.00392
NM_004960.3(FUS):c.*214C>T rs140875749 0.00361
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_018325.5(C9orf72):c.528T>C (p.Leu176=) rs34608611 0.00334
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_018325.5(C9orf72):c.*837G>A rs80172172 0.00329
NM_020919.4(ALS2):c.*1202C>T rs41309068 0.00327
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_018834.6(MATR3):c.*313A>G rs180806333 0.00300
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_000454.5(SOD1):c.*339C>T rs17880487 0.00263
NM_004960.3(FUS):c.*2988C>T rs73530301 0.00254
NM_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_014043.4(CHMP2B):c.*1255G>T rs144167614 0.00241
NM_004738.5(VAPB):c.*4559A>G rs73296848 0.00228
NM_018834.6(MATR3):c.*1394G>A rs572983701 0.00217
NM_018325.5(C9orf72):c.*1058G>T rs41272887 0.00203
NM_004960.3(FUS):c.*687G>A rs549602004 0.00193
NM_004738.5(VAPB):c.*1773G>A rs75999456 0.00188
NM_004738.5(VAPB):c.*2671A>G rs115191022 0.00183
NM_004738.5(VAPB):c.*3968C>T rs149967447 0.00183
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
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_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_004738.5(VAPB):c.*2320T>A rs181028077 0.00163
NM_004738.5(VAPB):c.*4072C>T rs190652187 0.00163
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_018325.5(C9orf72):c.288A>G (p.Ser96=) rs147752518 0.00146
NM_004738.5(VAPB):c.*1413C>G rs190582293 0.00139
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_001145.4(ANG):c.-383C>G rs113950902 0.00124
NM_014043.4(CHMP2B):c.*1610C>T rs191312397 0.00124
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_018325.5(C9orf72):c.*914A>G rs561651779 0.00118
NM_199189.3(MATR3):c.-247C>T rs141402332 0.00112
NM_018834.6(MATR3):c.*1767C>T rs181125183 0.00104
NM_004738.5(VAPB):c.*75G>A rs138521885 0.00098
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_004738.5(VAPB):c.*3822C>G rs150825395 0.00093
NM_018325.5(C9orf72):c.*174C>T rs146530591 0.00092
NM_018325.5(C9orf72):c.*1024A>G rs563194682 0.00084
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_004960.4(FUS):c.-47G>A rs72550864 0.00081
NM_014043.4(CHMP2B):c.*864G>A rs181777395 0.00079
NM_001145.4(ANG):c.-423C>T rs149147430 0.00078
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_004738.5(VAPB):c.*2224C>T rs189009703 0.00073
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_018834.6(MATR3):c.*769G>A rs561705958 0.00070
NM_004738.4(VAPB):c.-292G>C rs2234484 0.00067
NM_004738.5(VAPB):c.*2766C>T rs6128346 0.00064
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_014043.4(CHMP2B):c.*1408A>G rs183429826 0.00055
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_004738.5(VAPB):c.*3020A>G rs570716807 0.00053
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_014043.4(CHMP2B):c.*744C>A rs185167991 0.00048
NM_018834.6(MATR3):c.*2054T>A rs116278472 0.00047
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_018834.6(MATR3):c.*2200C>T rs770043950 0.00043
NM_004960.3(FUS):c.*3231T>C rs193018950 0.00041
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_004738.4(VAPB):c.-322G>C rs746837253 0.00039
NM_000454.4(SOD1):c.-83T>C rs377427683 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_004738.5(VAPB):c.*596C>T rs118055109 0.00036
NM_018325.5(C9orf72):c.1149+9T>C rs139352974 0.00036
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_004738.5(VAPB):c.*5005T>A rs146687585 0.00027
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_004738.5(VAPB):c.*2592G>A rs143902869 0.00023
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_018325.5(C9orf72):c.462C>T (p.Val154=) rs188263738 0.00019
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_004738.5(VAPB):c.*1335C>T rs187441988 0.00014
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_014043.4(CHMP2B):c.*836T>C rs189927047 0.00012
NM_018325.5(C9orf72):c.682T>C (p.Leu228=) rs147034723 0.00012
NM_000454.5(SOD1):c.*317T>C rs191345676 0.00011
NM_018834.6(MATR3):c.*2174C>T rs775200100 0.00011
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 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_004738.5(VAPB):c.*4923A>G rs776329339 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_018834.6(MATR3):c.*406A>G rs185734839 0.00006
NM_004738.5(VAPB):c.*884A>G rs3746398 0.00004
NM_004960.3(FUS):c.*1883T>C rs549012470 0.00004
NM_004960.3(FUS):c.*2884A>T rs554281103 0.00004
NM_007126.5(VCP):c.*438A>G rs137953487 0.00004
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_014043.4(CHMP2B):c.*1071A>G rs544589377 0.00003
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_199189.2(MATR3):c.-643A>G rs765907489 0.00003
NM_004960.4(FUS):c.*10C>T rs529269129 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_004738.5(VAPB):c.*4240G>C rs554043472 0.00001
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_018325.5(C9orf72):c.*651G>T rs548883941 0.00001
NM_018834.6(MATR3):c.*2194T>A rs760576225 0.00001
NM_018834.6(MATR3):c.*305A>C rs563125595 0.00001
NM_018834.6(MATR3):c.*97C>G rs769044248 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001145.4(ANG):c.-237A>C rs45525731
NM_004738.5(VAPB):c.*5612C>G rs140602757
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004960.3(FUS):c.*3230A>G rs550798081
NM_014043.4(CHMP2B):c.*1376G>C rs191203869
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_018834.6(MATR3):c.*640A>G rs145836548
NM_018834.6(MATR3):c.-43T>A rs12153162
NM_021980.4(OPTN):c.-227G>T rs3814657

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