ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by OMIM

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) rs140547520 0.00048
NM_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser) rs397518454 0.00009
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly) rs778264897 0.00007
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg) rs142083484 0.00005
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr) rs768554955 0.00003
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys) rs771621178 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.358-11A>G rs369600566 0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr) rs954539468 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004960.4(FUS):c.616G>A (p.Gly206Ser) rs387906628 0.00001
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) rs397514262 0.00001
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) rs397514263 0.00001
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) rs368743618 0.00001
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys) rs730880025 0.00001
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His) rs730880026 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) rs748112833 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly) rs1247392012 0.00001
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys) rs121912457
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.20G>T (p.Cys7Phe) rs121912448
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.253T>G (p.Leu85Val) rs121912452
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.358-304= rs1555836889
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr) rs121912449
NM_000454.5(SOD1):c.49G>A (p.Gly17Ser) rs121912453
NM_000454.5(SOD1):c.64G>A (p.Glu22Lys) rs121912450
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) rs267606928
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
NM_001008212.2(OPTN):c.166+349_370-945del
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu) rs121909535
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) rs121909537
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys) rs121909538
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp) rs121909539
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile) rs121909540
NM_001097577.3(ANG):c.409G>A (p.Val137Ile) rs121909544
NM_001256054.1(C9orf72):c.-45+163GGGGCC[>24]
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) rs1971438573
NM_001761.3(CCNF):c.585T>G (p.Ser195Arg) rs1371569927
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) rs281875284
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys) rs121909669
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly) rs387907264
NM_005022.4(PFN1):c.341T>C (p.Met114Thr) rs387907265
NM_005022.4(PFN1):c.353G>T (p.Gly118Val) rs387907266
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter) rs730880027
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro) rs730880029
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)
NM_006415.4(SPTLC1):c.118_123del (p.Phe40_Ser41del) rs2118840030
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser) rs879254294
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe) rs1554716504
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) rs267607087
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) rs387906790
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.475C>A (p.Arg159Ser) rs387906789
NM_007126.5(VCP):c.475C>G (p.Arg159Gly) rs387906789
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg) rs80356731
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) rs267607102
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.881G>C (p.Gly294Ala) rs80356721
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys) rs80356727
NM_013254.4(TBK1):c.1340+1G>A rs767898276
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013254.4(TBK1):c.958del (p.Thr320fs) rs755950225
NM_013437.5:c.-102CGG[(90_?)]
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser) rs387906710
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr) rs387906711
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr) rs121908290
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) rs730882255
NM_020919.4(ALS2):c.4573dup (p.Val1525fs) rs730882256
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.7029dup (p.Val2344fs) rs312262788
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn) rs397518453
NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg) rs754594235
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574

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