ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07196
NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val) rs56317523 0.00230
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_005235.3(ERBB4):c.308G>A (p.Arg103His) rs754487821 0.00033
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys) rs144311212 0.00011
NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys) rs148540431 0.00007
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) rs201841018 0.00004
NM_000446.7(PON1):c.707A>G (p.Tyr236Cys) rs755475189 0.00003
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_018091.6(ELP3):c.1385G>A (p.Arg462His) rs190129217 0.00003
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys) rs756650586 0.00002
NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile) rs369248674 0.00002
NM_000743.5(CHRNA3):c.1A>G (p.Met1Val) rs2053539304 0.00001
NM_001917.5(DAO):c.46G>A (p.Ala16Thr) rs778735604 0.00001
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NM_005022.4(PFN1):c.37G>A (p.Ala13Thr) rs763837842 0.00001
NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser) rs757597004 0.00001
NM_013444.4(UBQLN2):c.1516C>T (p.Pro506Ser) rs387906711 0.00001
NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) rs749233172 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) rs1689580631 0.00001
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) rs121912444
NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) rs121912444
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.205T>C (p.Ser69Pro) rs2049594204
NM_000454.5(SOD1):c.214C>T (p.His72Tyr) rs2049594311
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.376G>A (p.Asp126Asn) rs1568811372
NM_000454.5(SOD1):c.396T>G (p.Asn132Lys) rs1027128618
NM_000454.5(SOD1):c.400G>A (p.Glu134Lys) rs2049618449
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_000454.5(SOD1):c.95T>C (p.Val32Ala) rs1428716759
NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs) rs2053501632
NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs) rs2053208751
NM_000743.5(CHRNA3):c.725del (p.Leu242fs) rs2053207945
NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg) rs1476174487
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr) rs201645533
NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu) rs548549089
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1217del (p.Thr406fs) rs1833451208
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro) rs2131520977
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.875dup (p.Glu293fs) rs1833371664
NM_001097577.3(ANG):c.324dup (p.Gly109fs) rs1886957607
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) rs768107851
NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys) rs150620708
NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter) rs199678116
NM_001917.5(DAO):c.212C>T (p.Thr71Ile) rs138277420
NM_001917.5(DAO):c.962G>A (p.Gly321Glu) rs2039610204
NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro) rs1674497225
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) rs373818927
NM_004960.4(FUS):c.1394-1G>T rs2079347087
NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) rs1567479067
NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) rs121909671
NM_004960.4(FUS):c.1571G>T (p.Arg524Met) rs544088874
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys) rs1228194239
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly) rs1882640177
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys) rs757260058
NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala) rs1820836522
NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) rs1943161245
NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala) rs1844420892
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) rs1643659556
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_013254.4(TBK1):c.1436_1437del (p.Val479fs) rs876657405
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) rs1435710212
NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His) rs1644506661
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) rs763455928
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) rs374047961
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter) rs1226110412
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs) rs1303294230
NM_025137.4(SPG11):c.2250del (p.Phe750fs) rs2083790483
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085
NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter) rs2076486420
NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter) rs775935265
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574

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