ClinVar Miner

List of variants in gene AGXT reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191 0.00038
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173 0.00003
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253 0.00002
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) rs180177165 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168 0.00001
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) rs180177170 0.00001
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362 0.00001
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) rs113879010 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408 0.00001
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203 0.00001
NM_000030.3(AGXT):c.358+2T>G rs113681235 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000030.3(AGXT):c.371A>C (p.His124Pro) rs180177211 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.525-1G>A rs180177234 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.679_680+2del rs180177255 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000030.3(AGXT):c.783T>A (p.His261Gln) rs180177269 0.00001
NM_000030.3(AGXT):c.846+1G>T rs180177281 0.00001
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294 0.00001
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301 0.00001
NC_000002.11:g.(?_241808273)_(241812476_?)del
NC_000002.11:g.(?_241816944)_(241817059_?)del
NC_000002.11:g.(?_241816944)_(241818248_?)del
NC_000002.11:g.(?_241818121)_(241818248_?)del
NG_008005.1:g.(14407_14970)_(15375_?)del
NG_008005.1:g.(7706_9235)_(15375_?)del
NG_008005.1:g.(?_5001)_(11460_12190)del
NG_008005.1:g.(?_5001)_(9305_10233)del
NM_000030.2(AGXT):c.1072_1079del
NM_000030.2(AGXT):c.[299_307dup;308G>A]
NM_000030.2(AGXT):c.[829_830insA;830C>A]
NM_000030.2:c.1_524del
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) rs796052065
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) rs180177163
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.1120G>C (p.Asp374His)
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs) rs180177164
NM_000030.3(AGXT):c.1129_1130dup (p.Glu378fs)
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) rs796052066
NM_000030.3(AGXT):c.1153C>T (p.Gln385Ter)
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) rs180177168
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.166-1G>A rs180177177
NM_000030.3(AGXT):c.166-1_172dup
NM_000030.3(AGXT):c.175G>T (p.Glu59Ter) rs767586362
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) rs180177182
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) rs796052058
NM_000030.3(AGXT):c.215dup (p.Asn72fs) rs796052069
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.224del (p.Thr75fs)
NM_000030.3(AGXT):c.22G>C (p.Val8Leu) rs796052057
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) rs180177184
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)
NM_000030.3(AGXT):c.248A>G (p.His83Arg) rs180177186
NM_000030.3(AGXT):c.252_253del (p.Ala85fs)
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.26_27insA (p.Lys12fs) rs2106427278
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) rs180177189
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) rs180177198
NM_000030.3(AGXT):c.324G>A (p.Trp108Ter)
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) rs180177199
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32_33del (p.Pro11fs) rs180177201
NM_000030.3(AGXT):c.32_33insT (p.Lys12fs)
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) rs180177202
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.349dup (p.Glu117fs)
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.359-1_382del rs796052070
NM_000030.3(AGXT):c.374_381del (p.Pro125fs) rs2058986184
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) rs180177213
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) rs180177214
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-2A>G rs180177219
NM_000030.3(AGXT):c.433del (p.Gln145fs)
NM_000030.3(AGXT):c.445del (p.Val149fs) rs180177220
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) rs180177222
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) rs180177223
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)
NM_000030.3(AGXT):c.460del (p.Thr154fs) rs180177224
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)
NM_000030.3(AGXT):c.469del (p.Glu157fs)
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) rs180177225
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.473del (p.Ser158fs)
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) rs180177227
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
NM_000030.3(AGXT):c.508G>C (p.Gly170Arg)
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) rs2106428650
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) rs180177231
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.525-2A>G rs1452455390
NM_000030.3(AGXT):c.525-2A>T
NM_000030.3(AGXT):c.529A>T (p.Lys177Ter)
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) rs180177237
NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)
NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)
NM_000030.3(AGXT):c.570del (p.Thr191fs) rs180177240
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) rs180177243
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)
NM_000030.3(AGXT):c.595+1G>T
NM_000030.3(AGXT):c.595+2T>G
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-1G>A
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.598A>G (p.Ile200Val)
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) rs536352238
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) rs180177247
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) rs180177248
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)
NM_000030.3(AGXT):c.626del (p.Lys209fs)
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) rs180177250
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) rs180177251
NM_000030.3(AGXT):c.642del (p.Pro215fs) rs2106429906
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.658A>T (p.Ile220Phe)
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) rs180177254
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.665dup (p.Ser223fs)
NM_000030.3(AGXT):c.673A>T (p.Lys225Ter)
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.67C>T (p.Gln23Ter) rs1575707182
NM_000030.3(AGXT):c.680+1G>A rs111996685
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.680+1G>T
NM_000030.3(AGXT):c.680+2T>A rs111742810
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA rs1553648931
NM_000030.3(AGXT):c.680+5G>C rs180177256
NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.716_718del (p.Ser239del)
NM_000030.3(AGXT):c.725dup (p.Asp243fs) rs180177257
NM_000030.3(AGXT):c.727G>C (p.Asp243His) rs180177258
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)
NM_000030.3(AGXT):c.733_734del (p.Lys245fs)
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000030.3(AGXT):c.744del (p.Asn249fs) rs180177261
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) rs180177262
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) rs180177263
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.760_761insT (p.Asp254fs)
NM_000030.3(AGXT):c.766del (p.Gln256fs)
NM_000030.3(AGXT):c.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
NM_000030.3(AGXT):c.795del (p.Val266fs) rs2106430885
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) rs180177270
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) rs180177272
NM_000030.3(AGXT):c.823_824del (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)
NM_000030.3(AGXT):c.832del (p.Leu278fs) rs2106430919
NM_000030.3(AGXT):c.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
NM_000030.3(AGXT):c.841G>T (p.Glu281Ter) rs1575711244
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) rs180177279
NM_000030.3(AGXT):c.846+1G>A rs180177281
NM_000030.3(AGXT):c.846+646_942+139del
NM_000030.3(AGXT):c.846G>C (p.Gln282His) rs180177284
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) rs180177287
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) rs180177288
NM_000030.3(AGXT):c.856delinsCC (p.Asn286fs)
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr) rs180177289
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del) rs180177291
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) rs180177293
NM_000030.3(AGXT):c.919del (p.Leu307fs) rs180177295
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) rs180177296
NM_000030.3(AGXT):c.942+1G>A rs180177297
NM_000030.3(AGXT):c.942+1G>T rs180177297
NM_000030.3(AGXT):c.943-1G>A rs180177298
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) rs796052063
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) rs180177299
NM_000030.3(AGXT):c.959_960del (p.Thr320fs) rs796052074
NM_000030.3(AGXT):c.960del (p.Val321fs)
NM_000030.3(AGXT):c.971_972del (p.Val324fs) rs180177300
NM_000030.3(AGXT):c.973del (p.Ala325fs) rs2059037657
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.983dup (p.Gly329fs)
NM_000030.3(AGXT):c.994_995del (p.Trp332fs)
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_000030.3(AGXT):c.[32C>T;836T>C]

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