ClinVar Miner

List of variants reported as uncertain significance for frontotemporal dementia and/or amyotrophic lateral sclerosis 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln) rs144370662 0.00015
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met) rs755520364 0.00007
NM_013254.4(TBK1):c.1718G>A (p.Arg573His) rs186475789 0.00005
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val) rs755655622 0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) rs779715292 0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val) rs899858451 0.00004
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys) rs780192375 0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr) rs755069538 0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val) rs781325780 0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu) rs202011771 0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile) rs200758840 0.00003
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu) rs748571947 0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile) rs1433610854 0.00002
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys) rs772820487 0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg) rs375610142 0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly) rs746971642 0.00002
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr) rs763874949 0.00001
NM_013254.4(TBK1):c.1135A>G (p.Ile379Val) rs748864346 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013254.4(TBK1):c.1443A>T (p.Val481=) rs1396706988 0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg) rs1206925876 0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val) rs768023625 0.00001
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala) rs371955059 0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln) rs1337698475 0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala) rs41292021 0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=) rs769584803 0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His) rs748622208 0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val) rs751890932 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_013254.4(TBK1):c.962C>T (p.Ala321Val) rs762705031 0.00001
NM_013254.4(TBK1):c.1000A>G (p.Ile334Val)
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.1067G>A (p.Gly356Glu)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser) rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile) rs1592369002
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp) rs1267274595
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1225G>T (p.Asp409Tyr)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1244C>A (p.Ala415Asp)
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1255A>G (p.Thr419Ala)
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile) rs201332131
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln) rs2136079527
NM_013254.4(TBK1):c.1324G>C (p.Gly442Arg)
NM_013254.4(TBK1):c.1331G>C (p.Arg444Pro)
NM_013254.4(TBK1):c.1333T>C (p.Trp445Arg)
NM_013254.4(TBK1):c.1340+2dup
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu) rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.140G>A (p.Arg47His)
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser) rs369875862
NM_013254.4(TBK1):c.1414A>G (p.Ile472Val)
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala) rs2136056652
NM_013254.4(TBK1):c.1441G>A (p.Val481Ile)
NM_013254.4(TBK1):c.1451A>G (p.Lys484Arg)
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser) rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.147G>A (p.Val49=)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) rs1010930015
NM_013254.4(TBK1):c.1521+3_1521+6del
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
NM_013254.4(TBK1):c.1537G>A (p.Gly513Arg)
NM_013254.4(TBK1):c.1543A>G (p.Ile515Val)
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met) rs375618295
NM_013254.4(TBK1):c.1567G>A (p.Asp523Asn)
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys) rs922333386
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro) rs1192216525
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp) rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys) rs776059942
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+2dup rs2136087264
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly) rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met) rs1042991833
NM_013254.4(TBK1):c.1751A>C (p.Lys584Thr)
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1779T>A (p.His593Gln)
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu) rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile) rs2136088188
NM_013254.4(TBK1):c.1862+4del
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile) rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His) rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del) rs2136088359
NM_013254.4(TBK1):c.188A>G (p.Asn63Ser)
NM_013254.4(TBK1):c.1924G>A (p.Glu642Lys)
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn) rs1592376939
NM_013254.4(TBK1):c.1969A>G (p.Thr657Ala)
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly) rs2136089009
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser) rs1306279522
NM_013254.4(TBK1):c.2067-14_2067-11del
NM_013254.4(TBK1):c.2067-7T>A rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2067-9T>G
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser) rs2136089194
NM_013254.4(TBK1):c.2079_2082del (p.Glu695fs)
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del) rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser) rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val) rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser) rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+4A>C rs2136056750
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile) rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.337T>G (p.Leu113Val)
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+5G>A rs2136061124
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr) rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys) rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.506A>G (p.Gln169Arg)
NM_013254.4(TBK1):c.511G>A (p.Val171Ile) rs2136063606
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile) rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His) rs2136063631
NM_013254.4(TBK1):c.541-3T>G rs747738866
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu) rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile) rs2136069875
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp) rs576726084
NM_013254.4(TBK1):c.682C>T (p.Arg228Cys)
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.739T>C (p.Ser247Pro)
NM_013254.4(TBK1):c.73C>T (p.Arg25Cys)
NM_013254.4(TBK1):c.745G>A (p.Val249Ile)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr) rs1555203984
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.813-3T>C rs2040770701
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe) rs2136052800
NM_013254.4(TBK1):c.87G>T (p.Lys29Asn)
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.926T>C (p.Met309Thr)
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
NM_013254.4(TBK1):c.993T>C (p.Thr331=)

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