ClinVar Miner

List of variants in gene ABRAXAS1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu) rs773812911 0.00029
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile) rs767146349 0.00016
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser) rs376489465 0.00014
NM_139076.3(ABRAXAS1):c.116G>T (p.Gly39Val) rs762424001 0.00009
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln) rs201627097 0.00008
NM_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs) rs587780262 0.00006
NM_139076.3(ABRAXAS1):c.476+5A>C rs753767582 0.00006
NM_139076.3(ABRAXAS1):c.322C>G (p.Gln108Glu) rs573603690 0.00005
NM_139076.3(ABRAXAS1):c.659C>T (p.Ala220Val) rs568225415 0.00005
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp) rs150371881 0.00005
NM_139076.3(ABRAXAS1):c.892G>C (p.Val298Leu) rs1266518140 0.00005
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly) rs142910445 0.00004
NM_139076.3(ABRAXAS1):c.1124G>A (p.Gly375Asp) rs751122263 0.00004
NM_139076.3(ABRAXAS1):c.1139A>G (p.Asp380Gly) rs587780264 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser) rs1020540603 0.00004
NM_139076.3(ABRAXAS1):c.688T>C (p.Cys230Arg) rs968394207 0.00004
NM_139076.3(ABRAXAS1):c.727C>G (p.Leu243Val) rs755187051 0.00004
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val) rs773434048 0.00003
NM_139076.3(ABRAXAS1):c.781C>G (p.Gln261Glu) rs373605348 0.00003
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe) rs377162113 0.00003
NM_139076.3(ABRAXAS1):c.926G>A (p.Ser309Asn) rs1060503251 0.00003
NM_139076.3(ABRAXAS1):c.139G>C (p.Asp47His) rs764540685 0.00002
NM_139076.3(ABRAXAS1):c.310C>T (p.Arg104Cys) rs779497289 0.00002
NM_139076.3(ABRAXAS1):c.404T>A (p.Leu135Ter) rs765697539 0.00002
NM_139076.3(ABRAXAS1):c.433T>C (p.Ser145Pro) rs886983641 0.00002
NM_139076.3(ABRAXAS1):c.500T>C (p.Val167Ala) rs1166739614 0.00002
NM_139076.3(ABRAXAS1):c.536A>G (p.Tyr179Cys) rs774586693 0.00002
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu) rs1415231112 0.00002
NM_139076.3(ABRAXAS1):c.1012G>A (p.Ala338Thr) rs1722174148 0.00001
NM_139076.3(ABRAXAS1):c.1019C>T (p.Thr340Ile) rs367958380 0.00001
NM_139076.3(ABRAXAS1):c.1036C>T (p.His346Tyr) rs755755614 0.00001
NM_139076.3(ABRAXAS1):c.103G>C (p.Gly35Arg) rs749184518 0.00001
NM_139076.3(ABRAXAS1):c.1063T>C (p.Trp355Arg) rs1340605631 0.00001
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del) rs878855206 0.00001
NM_139076.3(ABRAXAS1):c.1108T>A (p.Ser370Thr) rs587780263 0.00001
NM_139076.3(ABRAXAS1):c.1148C>T (p.Ser383Phe) rs1722159207 0.00001
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn) rs763567031 0.00001
NM_139076.3(ABRAXAS1):c.1213C>T (p.Arg405Trp) rs748616526 0.00001
NM_139076.3(ABRAXAS1):c.1223C>T (p.Thr408Ile) rs368663402 0.00001
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp) rs587780265 0.00001
NM_139076.3(ABRAXAS1):c.271A>G (p.Asn91Asp) rs750097709 0.00001
NM_139076.3(ABRAXAS1):c.299A>T (p.Tyr100Phe) rs878855207 0.00001
NM_139076.3(ABRAXAS1):c.307C>T (p.Arg103Cys) rs748680448 0.00001
NM_139076.3(ABRAXAS1):c.308G>A (p.Arg103His) rs200068246 0.00001
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His) rs542570943 0.00001
NM_139076.3(ABRAXAS1):c.323A>T (p.Gln108Leu) rs1722533842 0.00001
NM_139076.3(ABRAXAS1):c.328A>G (p.Met110Val) rs756903113 0.00001
NM_139076.3(ABRAXAS1):c.434C>A (p.Ser145Tyr) rs1017145408 0.00001
NM_139076.3(ABRAXAS1):c.442C>T (p.Arg148Ter) rs1046873224 0.00001
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile) rs1445851548 0.00001
NM_139076.3(ABRAXAS1):c.490G>T (p.Val164Leu) rs781519076 0.00001
NM_139076.3(ABRAXAS1):c.575G>A (p.Ser192Asn) rs368006283 0.00001
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln) rs138594808 0.00001
NM_139076.3(ABRAXAS1):c.596G>A (p.Ser199Asn) rs1060503253 0.00001
NM_139076.3(ABRAXAS1):c.597-10T>A rs752868005 0.00001
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln) rs901660662 0.00001
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr) rs748861737 0.00001
NM_139076.3(ABRAXAS1):c.712del (p.Gln238fs) rs771336457 0.00001
NM_139076.3(ABRAXAS1):c.735G>T (p.Lys245Asn) rs1230517929 0.00001
NM_139076.3(ABRAXAS1):c.796+1G>A rs1262378912 0.00001
NM_139076.3(ABRAXAS1):c.832A>G (p.Ile278Val) rs960772904 0.00001
NM_139076.3(ABRAXAS1):c.835T>C (p.Phe279Leu) rs748047951 0.00001
NM_139076.3(ABRAXAS1):c.836T>G (p.Phe279Cys) rs587780268 0.00001
NM_139076.3(ABRAXAS1):c.854G>A (p.Arg285Gln) rs780076912 0.00001
NM_139076.3(ABRAXAS1):c.889T>C (p.Cys297Arg) rs745996212 0.00001
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser) rs778300694 0.00001
NM_139076.3(ABRAXAS1):c.916G>C (p.Val306Leu) rs758777622 0.00001
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn) rs775345294 0.00001
NM_139076.3(ABRAXAS1):c.985C>T (p.His329Tyr) rs1248645578 0.00001
NM_139076.3(ABRAXAS1):c.986A>G (p.His329Arg) rs778357689 0.00001
NC_000004.11:g.(?_84383622)_(84406225_?)del
NC_000004.11:g.(?_84383622)_(84406225_?)dup
NC_000004.11:g.(?_84391526)_(84391832_?)del
NC_000004.11:g.(?_84393365)_(84393451_?)dup
NC_000004.12:g.(?_83462459)_(83485082_?)dup
NC_000004.12:g.(?_83482144)_(83485072_?)dup
NM_139076.3(ABRAXAS1):c.1015A>G (p.Ser339Gly)
NM_139076.3(ABRAXAS1):c.1018A>G (p.Thr340Ala) rs758969039
NM_139076.3(ABRAXAS1):c.1022C>T (p.Pro341Leu) rs1722173605
NM_139076.3(ABRAXAS1):c.1032dup (p.Lys345Ter) rs587780261
NM_139076.3(ABRAXAS1):c.1033A>G (p.Lys345Glu) rs1722172481
NM_139076.3(ABRAXAS1):c.1056T>A (p.Asp352Glu) rs773812911
NM_139076.3(ABRAXAS1):c.1057G>A (p.Asp353Asn) rs1578122280
NM_139076.3(ABRAXAS1):c.1058A>G (p.Asp353Gly)
NM_139076.3(ABRAXAS1):c.1066C>A (p.Gln356Lys) rs2110032968
NM_139076.3(ABRAXAS1):c.1082G>C (p.Arg361Pro)
NM_139076.3(ABRAXAS1):c.1093A>G (p.Thr365Ala)
NM_139076.3(ABRAXAS1):c.1097A>G (p.Gln366Arg) rs1269730495
NM_139076.3(ABRAXAS1):c.1105C>T (p.Arg369Ter) rs1560570544
NM_139076.3(ABRAXAS1):c.1106G>A (p.Arg369Gln)
NM_139076.3(ABRAXAS1):c.1106G>T (p.Arg369Leu) rs755313466
NM_139076.3(ABRAXAS1):c.1114G>C (p.Ala372Pro) rs1722162523
NM_139076.3(ABRAXAS1):c.1123G>C (p.Gly375Arg)
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala) rs751122263
NM_139076.3(ABRAXAS1):c.1126A>G (p.Ser376Gly) rs1722161264
NM_139076.3(ABRAXAS1):c.113A>C (p.Lys38Thr) rs1723021960
NM_139076.3(ABRAXAS1):c.1143dup (p.Ala382fs) rs1327418487
NM_139076.3(ABRAXAS1):c.1144G>C (p.Ala382Pro) rs1038252853
NM_139076.3(ABRAXAS1):c.1147T>A (p.Ser383Thr) rs2110032821
NM_139076.3(ABRAXAS1):c.1154T>C (p.Met385Thr)
NM_139076.3(ABRAXAS1):c.1155G>C (p.Met385Ile) rs1553936012
NM_139076.3(ABRAXAS1):c.1162C>A (p.Pro388Thr) rs764951890
NM_139076.3(ABRAXAS1):c.1162C>G (p.Pro388Ala) rs764951890
NM_139076.3(ABRAXAS1):c.1163C>T (p.Pro388Leu)
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu) rs1560570462
NM_139076.3(ABRAXAS1):c.1181T>C (p.Ile394Thr) rs2110032759
NM_139076.3(ABRAXAS1):c.1211C>T (p.Ser404Leu) rs2110032712
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln) rs200281698
NM_139076.3(ABRAXAS1):c.1217C>A (p.Ser406Tyr) rs1325575122
NM_139076.3(ABRAXAS1):c.121G>A (p.Ala41Thr) rs1723021568
NM_139076.3(ABRAXAS1):c.122C>T (p.Ala41Val)
NM_139076.3(ABRAXAS1):c.160G>C (p.Glu54Gln)
NM_139076.3(ABRAXAS1):c.175A>G (p.Ile59Val) rs1428512699
NM_139076.3(ABRAXAS1):c.176T>A (p.Ile59Asn) rs772825230
NM_139076.3(ABRAXAS1):c.176T>C (p.Ile59Thr) rs772825230
NM_139076.3(ABRAXAS1):c.178+3G>A rs2110049260
NM_139076.3(ABRAXAS1):c.190T>C (p.Tyr64His)
NM_139076.3(ABRAXAS1):c.215+1G>A rs2110044831
NM_139076.3(ABRAXAS1):c.215G>A (p.Ser72Asn) rs2110044834
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr) rs1404975428
NM_139076.3(ABRAXAS1):c.268_270dup (p.Ser90dup) rs2110041387
NM_139076.3(ABRAXAS1):c.278A>G (p.Lys93Arg)
NM_139076.3(ABRAXAS1):c.283-283_306del rs1722534884
NM_139076.3(ABRAXAS1):c.289G>A (p.Val97Ile)
NM_139076.3(ABRAXAS1):c.308G>T (p.Arg103Leu) rs200068246
NM_139076.3(ABRAXAS1):c.320A>T (p.Asp107Val) rs1578128583
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met) rs924277966
NM_139076.3(ABRAXAS1):c.332C>T (p.Thr111Met) rs1553936765
NM_139076.3(ABRAXAS1):c.342G>C (p.Glu114Asp) rs1722533185
NM_139076.3(ABRAXAS1):c.345G>C (p.Arg115Ser) rs762389463
NM_139076.3(ABRAXAS1):c.349C>A (p.Leu117Ile) rs765150557
NM_139076.3(ABRAXAS1):c.358A>T (p.Asn120Tyr)
NM_139076.3(ABRAXAS1):c.359A>T (p.Asn120Ile) rs1553936762
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter) rs137876115
NM_139076.3(ABRAXAS1):c.368A>G (p.Glu123Gly)
NM_139076.3(ABRAXAS1):c.375T>G (p.Phe125Leu)
NM_139076.3(ABRAXAS1):c.381C>G (p.Asn127Lys)
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu) rs1560574581
NM_139076.3(ABRAXAS1):c.415A>G (p.Ile139Val) rs2110039689
NM_139076.3(ABRAXAS1):c.416T>C (p.Ile139Thr)
NM_139076.3(ABRAXAS1):c.416TAA[1] (p.Ile140del)
NM_139076.3(ABRAXAS1):c.417A>G (p.Ile139Met) rs1722530322
NM_139076.3(ABRAXAS1):c.431G>A (p.Cys144Tyr)
NM_139076.3(ABRAXAS1):c.436A>G (p.Thr146Ala) rs1472680353
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln) rs760079258
NM_139076.3(ABRAXAS1):c.443G>T (p.Arg148Leu) rs760079258
NM_139076.3(ABRAXAS1):c.455C>A (p.Ser152Tyr)
NM_139076.3(ABRAXAS1):c.456del (p.Leu153fs) rs1578128367
NM_139076.3(ABRAXAS1):c.461A>G (p.Tyr154Cys)
NM_139076.3(ABRAXAS1):c.464A>C (p.Lys155Thr)
NM_139076.3(ABRAXAS1):c.467C>T (p.Pro156Leu) rs1722527633
NM_139076.3(ABRAXAS1):c.469C>T (p.Gln157Ter) rs1722527531
NM_139076.3(ABRAXAS1):c.477-1G>T
NM_139076.3(ABRAXAS1):c.477A>G (p.Gly159=) rs1722491084
NM_139076.3(ABRAXAS1):c.489G>T (p.Arg163Ser) rs535462791
NM_139076.3(ABRAXAS1):c.505G>A (p.Ala169Thr)
NM_139076.3(ABRAXAS1):c.514_515delinsAA (p.Gly172Asn)
NM_139076.3(ABRAXAS1):c.515G>T (p.Gly172Val) rs766408024
NM_139076.3(ABRAXAS1):c.518T>C (p.Met173Thr) rs587780266
NM_139076.3(ABRAXAS1):c.556T>C (p.Cys186Arg)
NM_139076.3(ABRAXAS1):c.558dup (p.Met187fs) rs1722486804
NM_139076.3(ABRAXAS1):c.562T>C (p.Ser188Pro)
NM_139076.3(ABRAXAS1):c.571T>G (p.Phe191Val)
NM_139076.3(ABRAXAS1):c.584T>C (p.Val195Ala)
NM_139076.3(ABRAXAS1):c.586C>A (p.Gln196Lys) rs1453713620
NM_139076.3(ABRAXAS1):c.586C>T (p.Gln196Ter)
NM_139076.3(ABRAXAS1):c.591dup (p.His198fs)
NM_139076.3(ABRAXAS1):c.595A>C (p.Ser199Arg) rs1722484545
NM_139076.3(ABRAXAS1):c.596+3A>C
NM_139076.3(ABRAXAS1):c.597-11A>G
NM_139076.3(ABRAXAS1):c.597C>T (p.Ser199=)
NM_139076.3(ABRAXAS1):c.601A>G (p.Lys201Glu)
NM_139076.3(ABRAXAS1):c.602A>C (p.Lys201Thr)
NM_139076.3(ABRAXAS1):c.603A>T (p.Lys201Asn)
NM_139076.3(ABRAXAS1):c.612AGA[1] (p.Glu205del) rs759905964
NM_139076.3(ABRAXAS1):c.620G>A (p.Gly207Glu)
NM_139076.3(ABRAXAS1):c.649G>T (p.Glu217Ter)
NM_139076.3(ABRAXAS1):c.656A>G (p.Tyr219Cys)
NM_139076.3(ABRAXAS1):c.681+5G>A rs1722414601
NM_139076.3(ABRAXAS1):c.685A>T (p.Ile229Leu) rs2110034090
NM_139076.3(ABRAXAS1):c.695_696insTAAAAAAAA (p.Lys231_Lys232insAsnLysLys) rs2110034084
NM_139076.3(ABRAXAS1):c.696del (p.Val233fs)
NM_139076.3(ABRAXAS1):c.698T>C (p.Val233Ala) rs2110034075
NM_139076.3(ABRAXAS1):c.709G>T (p.Glu237Ter) rs758079543
NM_139076.3(ABRAXAS1):c.722A>C (p.Asp241Ala) rs2110034041
NM_139076.3(ABRAXAS1):c.747A>T (p.Arg249Ser) rs1722231029
NM_139076.3(ABRAXAS1):c.754C>T (p.Arg252Ter) rs1300270870
NM_139076.3(ABRAXAS1):c.773G>C (p.Arg258Thr) rs1060503254
NM_139076.3(ABRAXAS1):c.778G>A (p.Ala260Thr)
NM_139076.3(ABRAXAS1):c.787C>G (p.Gln263Glu) rs199541299
NM_139076.3(ABRAXAS1):c.797-1G>A rs1722192551
NM_139076.3(ABRAXAS1):c.797-3T>C rs971707943
NM_139076.3(ABRAXAS1):c.820C>G (p.Pro274Ala) rs1060503252
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser) rs1060503252
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del) rs748475674
NM_139076.3(ABRAXAS1):c.828G>C (p.Glu276Asp) rs2110033350
NM_139076.3(ABRAXAS1):c.833T>C (p.Ile278Thr) rs587780267
NM_139076.3(ABRAXAS1):c.833T>G (p.Ile278Ser) rs587780267
NM_139076.3(ABRAXAS1):c.846G>T (p.Gln282His)
NM_139076.3(ABRAXAS1):c.864dup (p.Pro289fs) rs35378950
NM_139076.3(ABRAXAS1):c.871T>A (p.Ser291Thr) rs2110033286
NM_139076.3(ABRAXAS1):c.872C>G (p.Ser291Cys) rs2110033282
NM_139076.3(ABRAXAS1):c.875A>C (p.Glu292Ala) rs1578122514
NM_139076.3(ABRAXAS1):c.879dup (p.Leu294fs)
NM_139076.3(ABRAXAS1):c.88-3T>C
NM_139076.3(ABRAXAS1):c.895_908dup (p.Asn303delinsLysCysLeuTer) rs1578122471
NM_139076.3(ABRAXAS1):c.896T>C (p.Met299Thr)
NM_139076.3(ABRAXAS1):c.907A>G (p.Asn303Asp)
NM_139076.3(ABRAXAS1):c.908dup (p.Asn303fs) rs1578122465
NM_139076.3(ABRAXAS1):c.913C>A (p.His305Asn) rs1722181853
NM_139076.3(ABRAXAS1):c.914A>G (p.His305Arg) rs1438058565
NM_139076.3(ABRAXAS1):c.915T>A (p.His305Gln) rs587780269
NM_139076.3(ABRAXAS1):c.920C>G (p.Ser307Cys)
NM_139076.3(ABRAXAS1):c.92G>T (p.Gly31Val)
NM_139076.3(ABRAXAS1):c.932_937del (p.Cys311_Asn312del) rs1722179235
NM_139076.3(ABRAXAS1):c.937T>C (p.Tyr313His) rs1722179072
NM_139076.3(ABRAXAS1):c.943C>T (p.His315Tyr)
NM_139076.3(ABRAXAS1):c.945C>G (p.His315Gln) rs1578122388
NM_139076.3(ABRAXAS1):c.947A>G (p.His316Arg) rs2110033166
NM_139076.3(ABRAXAS1):c.959T>C (p.Val320Ala)
NM_139076.3(ABRAXAS1):c.965A>G (p.Asn322Ser)
NM_139076.3(ABRAXAS1):c.96T>G (p.Phe32Leu) rs1723022809
NM_139076.3(ABRAXAS1):c.97CTT[1] (p.Leu34del)
NM_139076.3(ABRAXAS1):c.988A>T (p.Thr330Ser)

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