ClinVar Miner

List of variants reported as likely benign for anterior horn disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016955.4(SEPSECS):c.*455C>T rs73252520 0.08857
NM_016955.4(SEPSECS):c.*2694A>G rs956925 0.07936
NR_039718.1(MIR4497):n.66C>T rs56079803 0.02373
NM_016955.4(SEPSECS):c.*638G>C rs10004441 0.01839
NM_016955.4(SEPSECS):c.*2209A>G rs9998044 0.01837
NM_153280.2(UBA1):c.*203C>T rs182093778 0.01657
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_018834.6(MATR3):c.-56G>A rs59033177 0.01187
NM_016955.4(SEPSECS):c.*1041T>C rs114420733 0.01027
NM_020919.4(ALS2):c.*379T>A rs144613080 0.00995
NM_020919.4(ALS2):c.*163A>G rs3219172 0.00975
NM_020919.4(ALS2):c.*942A>G rs41309066 0.00903
NM_020919.4(ALS2):c.4581-7A>G rs114458388 0.00827
NM_001008212.2(OPTN):c.*562T>G rs148646641 0.00706
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
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_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_004738.5(VAPB):c.*3118C>T rs56310716 0.00306
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_004738.5(VAPB):c.*467G>A rs141496875 0.00301
NM_016955.4(SEPSECS):c.*3402A>G rs149506792 0.00300
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_004738.5(VAPB):c.*375C>G rs540854828 0.00247
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_018325.5(C9orf72):c.*1214T>C rs191690136 0.00205
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_002180.3(IGHMBP2):c.*175T>C rs189725711 0.00166
NM_004738.5(VAPB):c.*2320T>A rs181028077 0.00163
NM_004738.5(VAPB):c.*4072C>T rs190652187 0.00163
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_004738.5(VAPB):c.*3566A>T rs114038495 0.00142
NM_004738.5(VAPB):c.*5790G>A rs192046748 0.00126
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_004738.5(VAPB):c.*3274C>T rs553170533 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_004738.5(VAPB):c.*6578T>G rs115932469 0.00121
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) rs199577696 0.00105
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_004738.5(VAPB):c.*3822C>G rs150825395 0.00093
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001122955.4(BSCL2):c.88-674G>T rs549450153 0.00088
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_004738.5(VAPB):c.*3725T>C rs574293455 0.00083
NM_004738.5(VAPB):c.*726A>G rs560832981 0.00083
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_004738.5(VAPB):c.-137C>T rs542349554 0.00062
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_004738.5(VAPB):c.*1347A>G rs192710529 0.00059
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_020631.6(PLEKHG5):c.-113C>A rs190848227 0.00057
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_004738.5(VAPB):c.*3020A>G rs570716807 0.00053
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_001008212.2(OPTN):c.147C>T (p.Thr49=) rs187734249 0.00045
NM_004738.5(VAPB):c.59-4A>G rs193136039 0.00044
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_004082.5(DCTN1):c.3610-14C>T rs757854575 0.00038
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_002937.5(RNASE4):c.-18+11A>C rs184963428 0.00033
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_004738.5(VAPB):c.*5005T>A rs146687585 0.00027
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_004738.5(VAPB):c.*3805G>C rs561048421 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004738.5(VAPB):c.*2592G>A rs143902869 0.00023
NM_004738.5(VAPB):c.*3764C>T rs376626781 0.00023
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_004738.5(VAPB):c.492C>T (p.Thr164=) rs139884809 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_006308.3(HSPB3):c.321C>T (p.His107=) rs367560285 0.00020
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_002180.3(IGHMBP2):c.*860G>A rs149898985 0.00013
NM_004082.5(DCTN1):c.*49G>A rs368049781 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004738.5(VAPB):c.*5851C>A rs772661395 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_020919.4(ALS2):c.3462G>A (p.Gln1154=) rs556027390 0.00013
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_018325.5(C9orf72):c.477A>G (p.Leu159=) rs374411112 0.00011
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
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_000454.5(SOD1):c.-26A>G rs571199057 0.00009
NM_002180.3(IGHMBP2):c.*417C>A rs117542830 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_004738.5(VAPB):c.*4265G>A rs780267648 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 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.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile) rs781214485 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 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_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_004738.5(VAPB):c.*2885G>C rs578172184 0.00002
NM_006308.3(HSPB3):c.-17C>A rs780916524 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004738.5(VAPB):c.*4240G>C rs554043472 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_018325.5(C9orf72):c.1259+8A>C rs182259442 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_001008212.2(OPTN):c.-164+13A>G rs556917167
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_002180.3(IGHMBP2):c.*524T>C rs192025232
NM_002180.3(IGHMBP2):c.*648G>A rs139118510
NM_002180.3(IGHMBP2):c.*729G>A rs191714559
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004738.5(VAPB):c.*5479C>T rs554455751
NM_004738.5(VAPB):c.*5612C>G rs140602757
NM_004738.5(VAPB):c.-150C>G rs572151788
NM_004738.5(VAPB):c.-33C>G rs201547974
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.4(FUS):c.*132C>A rs565540429
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486

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