ClinVar Miner

List of variants in gene TBK1 reported as likely benign for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_013254.4(TBK1):c.812G>A (p.Arg271Gln) rs56196591 0.00024
NM_013254.4(TBK1):c.1176A>G (p.Leu392=) rs141806113 0.00021
NM_013254.4(TBK1):c.1865A>G (p.Lys622Arg) rs199605037 0.00018
NM_013254.4(TBK1):c.1659A>C (p.Gln553His) rs772256797 0.00014
NM_013254.4(TBK1):c.378A>G (p.Leu126=) rs144462850 0.00011
NM_013254.4(TBK1):c.1073G>A (p.Arg358His) rs374208742 0.00010
NM_013254.4(TBK1):c.175T>C (p.Leu59=) rs545011546 0.00010
NM_013254.4(TBK1):c.87+8C>T rs148982416 0.00008
NM_013254.4(TBK1):c.1190-9A>G rs375547018 0.00007
NM_013254.4(TBK1):c.2175C>T (p.Asn725=) rs369222946 0.00007
NM_013254.4(TBK1):c.1797G>A (p.Thr599=) rs758803587 0.00006
NM_013254.4(TBK1):c.1062C>T (p.Tyr354=) rs141340205 0.00004
NM_013254.4(TBK1):c.2170C>T (p.Arg724Cys) rs185524052 0.00004
NM_013254.4(TBK1):c.723G>A (p.Lys241=) rs371799560 0.00004
NM_013254.4(TBK1):c.1207C>T (p.His403Tyr) rs749709445 0.00003
NM_013254.4(TBK1):c.1521+20C>T rs769754825 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_013254.4(TBK1):c.996T>A (p.Ala332=) rs752407982 0.00003
NM_013254.4(TBK1):c.1116A>G (p.Lys372=) rs775134475 0.00002
NM_013254.4(TBK1):c.1485A>G (p.Leu495=) rs771930992 0.00002
NM_013254.4(TBK1):c.1644-10C>T rs926345096 0.00002
NM_013254.4(TBK1):c.1340+13T>C rs1010954287 0.00001
NM_013254.4(TBK1):c.1340+8A>G rs2040817313 0.00001
NM_013254.4(TBK1):c.1422C>T (p.Asn474=) rs747788401 0.00001
NM_013254.4(TBK1):c.1476G>A (p.Ala492=) rs139653737 0.00001
NM_013254.4(TBK1):c.1584A>G (p.Pro528=) rs1592375893 0.00001
NM_013254.4(TBK1):c.1960-19_1960-18insC rs1213123906 0.00001
NM_013254.4(TBK1):c.2047T>C (p.Leu683=) rs369067312 0.00001
NM_013254.4(TBK1):c.381A>C (p.Arg127=) rs749847349 0.00001
NM_013254.4(TBK1):c.438G>A (p.Gly146=) rs751439290 0.00001
NM_013254.4(TBK1):c.540+8_540+9del rs761043079 0.00001
NM_013254.4(TBK1):c.88-9T>C rs758061744 0.00001
NM_013254.4(TBK1):c.945G>A (p.Ser315=) rs775905530 0.00001
NM_013254.3(TBK1):c.1644-5_1644-2del rs755646937
NM_013254.4(TBK1):c.1089T>C (p.Pro363=)
NM_013254.4(TBK1):c.1151G>A (p.Arg384Gln)
NM_013254.4(TBK1):c.1206A>G (p.Val402=)
NM_013254.4(TBK1):c.1248+18T>A
NM_013254.4(TBK1):c.1260G>C (p.Gly420=)
NM_013254.4(TBK1):c.1323G>A (p.Lys441=)
NM_013254.4(TBK1):c.1338G>T (p.Leu446=)
NM_013254.4(TBK1):c.1442+17C>T
NM_013254.4(TBK1):c.1442+18T>G
NM_013254.4(TBK1):c.1443-15T>C
NM_013254.4(TBK1):c.1443-6A>G rs1033675488
NM_013254.4(TBK1):c.1539A>C (p.Gly513=)
NM_013254.4(TBK1):c.153T>C (p.Val51=)
NM_013254.4(TBK1):c.1551C>T (p.Thr517=) rs1460627390
NM_013254.4(TBK1):c.1566C>T (p.Ile522=) rs375618295
NM_013254.4(TBK1):c.1602C>T (p.Asp534=)
NM_013254.4(TBK1):c.1643+19C>T
NM_013254.4(TBK1):c.1643+20G>A
NM_013254.4(TBK1):c.1656A>G (p.Leu552=)
NM_013254.4(TBK1):c.1720+16T>A
NM_013254.4(TBK1):c.1770G>A (p.Leu590=) rs753990284
NM_013254.4(TBK1):c.1785A>G (p.Thr595=)
NM_013254.4(TBK1):c.1862+13_1862+15del
NM_013254.4(TBK1):c.1862+7A>C rs2040933572
NM_013254.4(TBK1):c.1917T>C (p.Asp639=)
NM_013254.4(TBK1):c.1959+13G>A
NM_013254.4(TBK1):c.1959+17A>C
NM_013254.4(TBK1):c.1960-20_1960-19insC
NM_013254.4(TBK1):c.1960-7G>T rs768189768
NM_013254.4(TBK1):c.198T>C (p.Asn66=)
NM_013254.4(TBK1):c.2043C>T (p.Asn681=) rs759638468
NM_013254.4(TBK1):c.204C>G (p.Val68=)
NM_013254.4(TBK1):c.2066+11C>G
NM_013254.4(TBK1):c.2138+12A>C
NM_013254.4(TBK1):c.2139-5_2139-3dup
NM_013254.4(TBK1):c.2139-7G>A rs534404556
NM_013254.4(TBK1):c.2139-9G>A
NM_013254.4(TBK1):c.228+19A>G
NM_013254.4(TBK1):c.229-14_229-13insC
NM_013254.4(TBK1):c.229-9_229-8insG rs2136060930
NM_013254.4(TBK1):c.270A>C (p.Pro90=)
NM_013254.4(TBK1):c.312C>T (p.Ala104=)
NM_013254.4(TBK1):c.330T>C (p.Ser110=) rs1592356440
NM_013254.4(TBK1):c.358+17A>G
NM_013254.4(TBK1):c.358+4T>C
NM_013254.4(TBK1):c.358+9_358+12del rs769662604
NM_013254.4(TBK1):c.402T>C (p.Arg134=)
NM_013254.4(TBK1):c.541-18T>C
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_013254.4(TBK1):c.639T>C (p.His213=)
NM_013254.4(TBK1):c.701+16A>T rs2136069949
NM_013254.4(TBK1):c.729T>G (p.Ser243=)
NM_013254.4(TBK1):c.744A>C (p.Gly248=)
NM_013254.4(TBK1):c.780T>C (p.Ser260=)
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_013254.4(TBK1):c.816T>G (p.Gly272=)
NM_013254.4(TBK1):c.828A>G (p.Leu276=)
NM_013254.4(TBK1):c.87+17C>T
NM_013254.4(TBK1):c.88-4A>G

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.