ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 10 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_007375.3(TARDBP):c.-117G>A rs886045031 0.00003
NM_007375.3(TARDBP):c.-126G>T rs886045030 0.00003
NM_007375.4(TARDBP):c.*129T>C rs886045036 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_007375.4(TARDBP):c.*2749T>C rs1028236461 0.00003
NM_007375.4(TARDBP):c.*306C>T rs1034083151 0.00003
NM_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_007375.4(TARDBP):c.*963C>T rs751628760 0.00003
NM_007375.4(TARDBP):c.*1795A>G rs886045044 0.00002
NM_007375.4(TARDBP):c.*2334G>A rs182302907 0.00002
NM_007375.4(TARDBP):c.*954A>G rs1295153637 0.00002
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_007375.4(TARDBP):c.*2046T>G rs886045047 0.00001
NM_007375.4(TARDBP):c.*2252A>G rs552057039 0.00001
NM_007375.4(TARDBP):c.*2750G>A rs779882516 0.00001
NM_007375.4(TARDBP):c.*551C>G rs750948407 0.00001
NM_007375.4(TARDBP):c.*556G>A rs776417983 0.00001
NM_007375.4(TARDBP):c.*591G>A rs759396520 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*2005T>C rs886045045
NM_007375.4(TARDBP):c.*2029C>T rs886045046
NM_007375.4(TARDBP):c.*2260T>G rs1241104365
NM_007375.4(TARDBP):c.*2360C>T rs886045049
NM_007375.4(TARDBP):c.*560A>T rs1218479013
NM_007375.4(TARDBP):c.*56C>T rs1440666601
NM_007375.4(TARDBP):c.*616G>C rs1401947753
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.*763G>A rs1643678827
NM_007375.4(TARDBP):c.*842G>A rs886045039
NM_007375.4(TARDBP):c.*862G>T rs886045040
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855

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.