ClinVar Miner

List of variants in gene TARDBP studied for hereditary dementia

Included ClinVar conditions (231):
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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.-13+95C>T rs11121681 0.13481
NC_000001.11:g.11012634G>A rs11121679 0.13475
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
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.24C>T (p.Thr8=) rs72870030 0.00112
NM_007375.4(TARDBP):c.544-17C>T rs117557248 0.00085
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.975C>T (p.Ala325=) rs777072801 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.1101C>T (p.Phe367=) rs377531374 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_007375.4(TARDBP):c.714+17C>T rs374054081 0.00005
NM_007375.4(TARDBP):c.87C>T (p.Ser29=) rs201693535 0.00005
NM_007375.4(TARDBP):c.*83T>C rs80356744 0.00004
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) rs147795017 0.00004
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) rs80356742 0.00004
NM_007375.4(TARDBP):c.330T>G (p.Gly110=) rs199804130 0.00004
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.*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.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_007375.4(TARDBP):c.239-11G>A rs200694980 0.00003
NM_007375.4(TARDBP):c.403-5T>C rs372872536 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_007375.4(TARDBP):c.900A>G (p.Gly300=) rs146402671 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.1056T>C (p.Asn352=) rs561479675 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.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) rs1162800752 0.00001
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys) rs80356732 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_007375.4(TARDBP):c.162C>T (p.Val54=) rs751073315 0.00001
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) rs142913423 0.00001
NM_007375.4(TARDBP):c.402+19A>G rs200818944 0.00001
NM_007375.4(TARDBP):c.411A>G (p.Lys137=) rs766028449 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_007375.4(TARDBP):c.543+9G>A rs370342366 0.00001
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) rs956150244 0.00001
NM_007375.4(TARDBP):c.622C>A (p.Arg208=) rs1643615862 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) rs1419402299 0.00001
NM_007375.4(TARDBP):c.931A>G (p.Met311Val) rs80356725 0.00001
NC_000001.10:g.(?_11073785)_(11082711_?)dup
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*1633del rs886045043
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.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
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.-12-10_-12-9del rs575825467
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
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.1051G>A (p.Gly351Ser)
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
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.1069G>C (p.Gly357Arg) rs1553159719
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) rs1570725407
NM_007375.4(TARDBP):c.111G>A (p.Gly37=) rs1553158651
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter) rs80356737
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) rs147795017
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp) rs1557660662
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
NM_007375.4(TARDBP):c.114G>A (p.Ala38=)
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly) rs797044595
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) rs2100857066
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) rs80356743
NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) rs2100857132
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
NM_007375.4(TARDBP):c.189C>T (p.Ala63=) rs1399738284
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) rs1643465434
NM_007375.4(TARDBP):c.238+16G>T
NM_007375.4(TARDBP):c.238+21dup
NM_007375.4(TARDBP):c.239-12C>T
NM_007375.4(TARDBP):c.239-18T>C
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) rs1553159049
NM_007375.4(TARDBP):c.273A>G (p.Ser91=)
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
NM_007375.4(TARDBP):c.312C>T (p.Ser104=)
NM_007375.4(TARDBP):c.360G>A (p.Leu120=)
NM_007375.4(TARDBP):c.403-14A>G
NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)
NM_007375.4(TARDBP):c.495A>G (p.Arg165=)
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.543+15G>A rs749471636
NM_007375.4(TARDBP):c.543+16C>G
NM_007375.4(TARDBP):c.543+20G>T
NM_007375.4(TARDBP):c.544-15T>C
NM_007375.4(TARDBP):c.544-6G>C rs2100852266
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
NM_007375.4(TARDBP):c.609T>G (p.Thr203=)
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) rs1219922877
NM_007375.4(TARDBP):c.636T>G (p.Ser212=)
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)
NM_007375.4(TARDBP):c.67G>A (p.Asp23Asn)
NM_007375.4(TARDBP):c.699A>G (p.Thr233=) rs745343269
NM_007375.4(TARDBP):c.714+18G>A
NM_007375.4(TARDBP):c.714+69dup rs143130606
NM_007375.4(TARDBP):c.715-11A>G
NM_007375.4(TARDBP):c.715-18A>G
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_007375.4(TARDBP):c.774C>G (p.Ser258=)
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
NM_007375.4(TARDBP):c.780C>T (p.Ala260=)
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) rs267607102
NM_007375.4(TARDBP):c.792C>T (p.His264=)
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.883G>C (p.Gly295Arg) rs80356723
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.909A>G (p.Gln303=)
NM_007375.4(TARDBP):c.930G>A (p.Gly310=)
NM_007375.4(TARDBP):c.939T>C (p.Phe313=)
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp) rs1304706298
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys) rs80356727
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) rs80356728

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