ClinVar Miner

List of variants reported as likely pathogenic for frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys) rs144311212 0.00011
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
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_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_001008212.2(OPTN):c.1149-2A>G rs867368757 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001008212.2(OPTN):c.780-2A>C rs768117011 0.00001
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys) rs766653950 0.00001
NM_006262.4(PRPH):c.607-1G>A rs781660354 0.00001
NM_007126.5(VCP):c.278G>A (p.Arg93His) rs779959657 0.00001
NM_007126.5(VCP):c.284G>A (p.Arg95His) rs758169026 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.931A>G (p.Met311Val) rs80356725 0.00001
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) rs763131369 0.00001
NC_000010.10:g.(?_13152353)_(13162081_?)del
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.143T>C (p.Val48Ala) rs1568809169
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.19T>G (p.Cys7Gly) rs1312702973
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.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) rs121912436
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.263T>C (p.Val88Ala) rs1339283341
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
NM_000454.5(SOD1):c.290A>T (p.Asp97Val) rs1555836803
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys) rs1301635320
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)
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.377A>C (p.Asp126Ala) rs1164911383
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg) rs121912456
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.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.437C>T (p.Ala146Val) rs1131690781
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
NM_000454.5(SOD1):c.43G>A (p.Val15Met) rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu) rs1568807400
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn) rs1424014997
NM_000454.5(SOD1):c.44T>G (p.Val15Gly) rs1202989817
NM_000454.5(SOD1):c.49G>T (p.Gly17Cys) rs121912453
NM_000454.5(SOD1):c.63C>G (p.Phe21Leu) rs1555836170
NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)
NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) rs1169198442
NM_000454.5(SOD1):c.69G>C (p.Gln23His) rs1424217272
NM_000454.5(SOD1):c.95T>C (p.Val32Ala) rs1428716759
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro) rs2131520977
NM_001008212.2(OPTN):c.1401+1G>A rs1370982012
NM_001008212.2(OPTN):c.369+2T>C
NM_001008212.2(OPTN):c.370-1G>A rs2131488754
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.780-1G>C rs759311192
NM_001008212.2(OPTN):c.875dup (p.Glu293fs) rs1833371664
NM_001008212.2(OPTN):c.882+2_882+3del
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001080421.3(UNC13A):c.1668C>A (p.Phe556Leu)
NM_003900.5(SQSTM1):c.1128del (p.Gly376_Leu377insTer) rs1758359961
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
NM_004960.4(FUS):c.1468dup (p.Asp490fs)
NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp) rs1555509609
NM_004960.4(FUS):c.1542-1G>C rs1596914113
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.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
NM_005022.4(PFN1):c.318_319dup (p.Asp107fs) rs2151134645
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) rs1574867228
NM_007126.5(VCP):c.273C>A (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.283C>A (p.Arg95Ser)
NM_007126.5(VCP):c.284G>C (p.Arg95Pro) rs758169026
NM_007126.5(VCP):c.374G>A (p.Gly125Asp) rs1563980403
NM_007126.5(VCP):c.382G>A (p.Gly128Ser)
NM_007126.5(VCP):c.463C>G (p.Arg155Gly) rs121909330
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.553G>A (p.Glu185Lys) rs864309501
NM_007126.5(VCP):c.572G>C (p.Arg191Pro) rs121909334
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) rs1643659556
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp) rs1557660662
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp) rs1304706298
NM_014845.6(FIG4):c.2376+2T>G rs756308787
NM_014845.6(FIG4):c.647-2_647-1insG
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.