ClinVar Miner

List of variants reported as not provided by VIB Department of Molecular Genetics, University of Antwerp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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HGVS dbSNP
NG_007386.2:g.72916_78773del
NG_007386.2:g.73292_77846del
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1053_1055dup (p.Arg352dup) rs63750762
NM_000021.4(PSEN1):c.1061C>T (p.Thr354Ile) rs63751164
NM_000021.4(PSEN1):c.1073G>A (p.Arg358Gln) rs63751174
NM_000021.4(PSEN1):c.1094C>A (p.Ser365Tyr) rs63750941
NM_000021.4(PSEN1):c.1130G>T (p.Arg377Met) rs63751051
NM_000021.4(PSEN1):c.1133G>T (p.Gly378Val) rs63750323
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) rs63750687
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala) rs63750646
NM_000021.4(PSEN1):c.1157T>C (p.Phe386Ser) rs63749860
NM_000021.4(PSEN1):c.1169G>T (p.Ser390Ile) rs63750883
NM_000021.4(PSEN1):c.1171G>T (p.Val391Phe) rs63751066
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1214A>G (p.Asn405Ser) rs63751254
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1259T>G (p.Leu420Arg) rs63750802
NM_000021.4(PSEN1):c.1271T>G (p.Leu424Arg) rs63751032
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe) rs63750001
NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) rs63749925
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del) rs63750470
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.4(PSEN1):c.244G>C (p.Val82Leu) rs63749967
NM_000021.4(PSEN1):c.247_252del (p.Ile83_Met84del) rs63750307
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831
NM_000021.4(PSEN1):c.286G>T (p.Val96Phe) rs63750601
NM_000021.4(PSEN1):c.289G>T (p.Val97Leu) rs63750852
NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile) rs63750325
NM_000021.4(PSEN1):c.315T>G (p.Phe105Leu) rs63750321
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.343T>G (p.Tyr115Asp) rs63749962
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) rs63750550
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000021.4(PSEN1):c.358G>A (p.Glu120Lys) rs63750800
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.367G>A (p.Glu123Lys) rs63750378
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp) rs63750353
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr) rs63751106
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile) rs63750522
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe) rs63750322
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.429T>G (p.Ile143Met) rs63751071
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.440C>T (p.Thr147Ile) rs63750907
NM_000021.4(PSEN1):c.457C>G (p.Leu153Val) rs63751441
NM_000021.4(PSEN1):c.460T>A (p.Tyr154Asn) rs63750588
NM_000021.4(PSEN1):c.461A>G (p.Tyr154Cys) rs63751292
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Tyr156_Arg157insPheIle) rs63750631
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) rs63749885
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.493T>G (p.Trp165Gly) rs63751010
NM_000021.4(PSEN1):c.495G>C (p.Trp165Cys) rs63751484
NM_000021.4(PSEN1):c.496_498del (p.Leu166del) rs63751458
NM_000021.4(PSEN1):c.497T>G (p.Leu166Arg) rs63750265
NM_000021.4(PSEN1):c.498_500TAT[1] (p.Ile168del) rs63750879
NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro) rs63750418
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.518T>G (p.Leu173Trp) rs63750299
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
NM_000021.4(PSEN1):c.521T>G (p.Leu174Arg) rs63751025
NM_000021.4(PSEN1):c.524T>C (p.Phe175Ser) rs63750771
NM_000021.4(PSEN1):c.529T>C (p.Phe177Leu) rs63749911
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.616G>A (p.Gly206Ser) rs63750569
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) rs63750082
NM_000021.4(PSEN1):c.625G>A (p.Gly209Arg) rs63749880
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.637A>T (p.Ile213Phe) rs63750861
NM_000021.4(PSEN1):c.638T>C (p.Ile213Thr) rs63751309
NM_000021.4(PSEN1):c.640C>T (p.His214Tyr) rs63751003
NM_000021.4(PSEN1):c.650G>A (p.Gly217Asp) rs63750444
NM_000021.4(PSEN1):c.655C>T (p.Leu219Phe) rs63749987
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.665A>G (p.Gln222Arg) rs63750009
NM_000021.4(PSEN1):c.666G>C (p.Gln222His) rs63751072
NM_000021.4(PSEN1):c.676C>T (p.Leu226Phe) rs63750487
NM_000021.4(PSEN1):c.677T>G (p.Leu226Arg) rs63749961
NM_000021.4(PSEN1):c.685A>T (p.Ile229Phe) rs63749970
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.692C>T (p.Ala231Val) rs63750799
NM_000021.4(PSEN1):c.697A>T (p.Met233Leu) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.699G>C (p.Met233Ile) rs63751479
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000021.4(PSEN1):c.704T>C (p.Leu235Pro) rs63749835
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) rs63750858
NM_000021.4(PSEN1):c.733A>C (p.Thr245Pro) rs63750888
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.748T>G (p.Leu250Val) rs63750634
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.781G>T (p.Val261Phe) rs63750964
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.787T>C (p.Cys263Arg) rs63750543
NM_000021.4(PSEN1):c.788G>T (p.Cys263Phe) rs63751102
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu) rs63750779
NM_000021.4(PSEN1):c.805C>G (p.Arg269Gly) rs63751019
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.815T>C (p.Val272Ala) rs63750680
NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala) rs63750772
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.834A>C (p.Arg278Ser) rs63750524
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.844C>G (p.Leu282Val) rs63749937
NM_000021.4(PSEN1):c.845T>G (p.Leu282Arg) rs63750050
NM_000021.4(PSEN1):c.850C>T (p.Pro284Ser) rs63750324
NM_000021.4(PSEN1):c.851C>T (p.Pro284Leu) rs63750863
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) rs63751139
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000021.4(PSEN1):c.871A>C (p.Thr291Pro) rs63750298
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) rs28936380
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847
NM_000484.4(APP):c.2030A>G (p.His677Arg) rs63749953
NM_000484.4(APP):c.2032G>A (p.Asp678Asn) rs63750064
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2077G>A (p.Glu693Lys) rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2113C>G (p.Leu705Val) rs63750921
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2141C>T (p.Thr714Ile) rs63750973
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2144T>C (p.Val715Ala) rs63750868
NM_000484.4(APP):c.2145G>A (p.Val715=) rs63750627
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2147T>C (p.Ile716Thr) rs63750851
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2168T>C (p.Leu723Pro) rs63751122
NM_000484.4(APP):c.2172G>C (p.Lys724Asn) rs63750151
NM_002087.3(GRN):c.-8+3A>T rs63751020
NM_002087.3(GRN):c.-8+5G>C rs63750313
NM_002087.3(GRN):c.1009C>T (p.Gln337Ter) rs63751406
NM_002087.3(GRN):c.102C>T (p.Pro34=) rs63751074
NM_002087.3(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.3(GRN):c.1095_1096del (p.Pro365_Cys366insTer) rs63749988
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) rs63749905
NM_002087.3(GRN):c.1145del (p.Thr382fs) rs63750805
NM_002087.3(GRN):c.1157G>A (p.Trp386Ter) rs63751213
NM_002087.3(GRN):c.1176A>C (p.Pro392=) rs63750448
NM_002087.3(GRN):c.1201C>T (p.Gln401Ter) rs63750118
NM_002087.3(GRN):c.1227_1228GT[2] (p.Val411fs) rs63750351
NM_002087.3(GRN):c.1227_1228GT[4] (p.Val411_Ala412insTer) rs63750351
NM_002087.3(GRN):c.1241G>T (p.Gly414Val) rs63750920
NM_002087.3(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.3(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.3(GRN):c.1294C>T (p.Arg432Cys) rs63750130
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.1341C>T (p.His447=) rs63750775
NM_002087.3(GRN):c.1373C>T (p.Pro458Leu) rs63750537
NM_002087.3(GRN):c.138+1G>A rs63749844
NM_002087.3(GRN):c.1395dup (p.Cys466fs) rs63749951
NM_002087.3(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.3(GRN):c.1409C>T (p.Pro470Leu) rs63750007
NM_002087.3(GRN):c.1422C>T (p.Cys474=) rs63751470
NM_002087.3(GRN):c.1425C>T (p.Cys475=) rs63751104
NM_002087.3(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002087.3(GRN):c.1485C>T (p.Cys495=) rs63750576
NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.3(GRN):c.154del (p.Thr52fs) rs63751092
NM_002087.3(GRN):c.158T>C (p.Leu53Pro) rs63750481
NM_002087.3(GRN):c.1623G>C (p.Trp541Cys) rs63751060
NM_002087.3(GRN):c.1648G>A (p.Val550Ile) rs63750754
NM_002087.3(GRN):c.1666C>T (p.Arg556Cys) rs63750116
NM_002087.3(GRN):c.1695C>T (p.Cys565=) rs63751248
NM_002087.3(GRN):c.234_235del (p.Gly79fs) rs63750373
NM_002087.3(GRN):c.243del (p.Ser82fs) rs63751193
NM_002087.3(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.3(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.3(GRN):c.279G>A (p.Gly93=) rs63751088
NM_002087.3(GRN):c.2T>C (p.Met1Thr) rs63751006
NM_002087.3(GRN):c.313T>C (p.Cys105Arg) rs63750441
NM_002087.3(GRN):c.317G>A (p.Ser106Asn) rs63750202
NM_002087.3(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.3(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.3(GRN):c.361del (p.Val121fs) rs63749940
NM_002087.3(GRN):c.373C>T (p.Gln125Ter) rs63750077
NM_002087.3(GRN):c.380_381del (p.Pro127fs) rs63750405
NM_002087.3(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.3(GRN):c.384_387del (p.Gln130fs) rs63750768
NM_002087.3(GRN):c.388_391del (p.Gln130fs) rs63749801
NM_002087.3(GRN):c.3G>A (p.Met1Ile) rs63750331
NM_002087.3(GRN):c.421G>A (p.Val141Ile) rs63749853
NM_002087.3(GRN):c.463-1G>A rs63750536
NM_002087.3(GRN):c.468_474del (p.Cys157fs) rs63750247
NM_002087.3(GRN):c.473G>A (p.Cys158Tyr) rs63750163
NM_002087.3(GRN):c.545C>T (p.Thr182Met) rs63750479
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.3(GRN):c.635G>A (p.Arg212Gln) rs63750787
NM_002087.3(GRN):c.63_64insC (p.Asp22fs) rs63750981
NM_002087.3(GRN):c.658A>T (p.Thr220Ser) rs63750683
NM_002087.3(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.3(GRN):c.698C>A (p.Pro233Gln) rs63750455
NM_002087.3(GRN):c.708+1G>C rs63749817
NM_002087.3(GRN):c.708C>T (p.Asn236=) rs63750744
NM_002087.3(GRN):c.709-2A>G rs63750548
NM_002087.3(GRN):c.743C>T (p.Pro248Leu) rs63750344
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.3(GRN):c.773G>A (p.Ser258Asn) rs63751000
NM_002087.3(GRN):c.781C>A (p.Leu261Ile) rs63750435
NM_002087.3(GRN):c.804G>A (p.Thr268=) rs63750229
NM_002087.3(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.3(GRN):c.835_835+1insCTGA rs63750976
NM_002087.3(GRN):c.836-1G>C rs63751296
NM_002087.3(GRN):c.861G>C (p.Glu287Asp) rs63750565
NM_002087.3(GRN):c.87_90dup (p.Cys31fs) rs63751057
NM_002087.3(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.3(GRN):c.909del (p.Trp304fs) rs63750366
NM_002087.3(GRN):c.910_911insTG (p.Trp304fs) rs63751239
NM_002087.3(GRN):c.911G>A (p.Trp304Ter) rs63751177
NM_002087.3(GRN):c.933+1G>A rs63750707
NM_002087.3(GRN):c.942C>A (p.Cys314Ter) rs63750926
NM_002087.3(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002087.3(GRN):c.996G>A (p.Lys332=) rs63750785
NM_002087.3(GRN):c.998del (p.Gly333fs) rs63750873
NM_002087.3(GRN):c.99C>T (p.Asp33=) rs63750742
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>C rs63750652
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818
NM_016835.4(MAPT):c.1107C>T (p.Ser369=) rs63750862
NM_016835.4(MAPT):c.117G>A (p.Thr39=) rs63750529
NM_016835.4(MAPT):c.1321T>C (p.Tyr441His) rs2258689
NM_016835.4(MAPT):c.1339T>C (p.Ser447Pro) rs10445337
NM_016835.4(MAPT):c.1479G>A (p.Pro493=) rs1052551
NM_016835.4(MAPT):c.1483G>A (p.Ala495Thr) rs63750612
NM_016835.4(MAPT):c.14G>T (p.Arg5Leu) rs63750959
NM_016835.4(MAPT):c.1507+2342T>C rs62063845
NM_016835.4(MAPT):c.1632A>G (p.Ala544=) rs1052553
NM_016835.4(MAPT):c.1666G>A (p.Ala556Thr) rs63750096
NM_016835.4(MAPT):c.1716T>C (p.Asn572=) rs17652121
NM_016835.4(MAPT):c.1721A>C (p.Lys574Thr) rs63750129
NM_016835.4(MAPT):c.1729A>G (p.Ile577Val) rs63751249
NM_016835.4(MAPT):c.1747C>G (p.Leu583Val) rs63750349
NM_016835.4(MAPT):c.1761G>A (p.Pro587=) rs11568305
NM_016835.4(MAPT):c.1766G>T (p.Gly589Val) rs63750376
NM_016835.4(MAPT):c.1774-10G>T rs63749974
NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) rs63750756
NM_016835.4(MAPT):c.1789_1791AAG[1] (p.Lys598del) rs63750688
NM_016835.4(MAPT):c.1803T>C (p.Leu601=) rs63751423
NM_016835.4(MAPT):c.1835_1837ATA[1] (p.Asn613del) rs63751392
NM_016835.4(MAPT):c.1837A>C (p.Asn613His) rs63750416
NM_016835.4(MAPT):c.1839T>C (p.Asn613=) rs63750912
NM_016835.4(MAPT):c.1852C>T (p.Pro618Ser) rs63751438
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) rs63751273
NM_016835.4(MAPT):c.1854G>A (p.Pro618=) rs63751395
NM_016835.4(MAPT):c.1859G>T (p.Gly620Val) rs63751391
NM_016835.4(MAPT):c.1865G>A (p.Ser622Asn) rs63751165
NM_016835.4(MAPT):c.1866+11T>C rs63751394
NM_016835.4(MAPT):c.1866+12C>T rs63750916
NM_016835.4(MAPT):c.1866+13A>G rs63750308
NM_016835.4(MAPT):c.1866+14C>T rs63750972
NM_016835.4(MAPT):c.1866+16C>T rs63751011
NM_016835.4(MAPT):c.1866+19C>G rs63750162
NM_016835.4(MAPT):c.1866+25C>T rs63750117
NM_016835.4(MAPT):c.1866+29G>A rs63751443
NM_016835.4(MAPT):c.1866+3G>A rs63750013
NM_016835.4(MAPT):c.1866T>C (p.Ser622=) rs63750568
NM_016835.4(MAPT):c.1895T>G (p.Leu632Arg) rs63749855
NM_016835.4(MAPT):c.1896G>A (p.Leu632=) rs63751231
NM_016835.4(MAPT):c.1901A>T (p.Lys634Met) rs63750092
NM_016835.4(MAPT):c.1910C>T (p.Ser637Phe) rs63750635
NM_016835.4(MAPT):c.1954G>A (p.Gly652Ser) rs63750095
NM_016835.4(MAPT):c.1955G>T (p.Gly652Val) rs63750905
NM_016835.4(MAPT):c.1958A>G (p.Gln653Arg) rs63750573
NM_016835.4(MAPT):c.1960G>A (p.Val654Met) rs63750570
NM_016835.4(MAPT):c.1976A>T (p.Glu659Val) rs63750711
NM_016835.4(MAPT):c.2006C>T (p.Ser669Leu) rs63750425
NM_016835.4(MAPT):c.2038G>A (p.Val680Ile) rs63750869
NM_016835.4(MAPT):c.2057A>T (p.Lys686Ile) rs63751264
NM_016835.4(MAPT):c.2116G>C (p.Gly706Arg) rs63750512
NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) rs63750424
NM_016835.4(MAPT):c.2221C>A (p.Gln741Lys) rs63750191
NM_016835.4(MAPT):c.2231C>T (p.Thr744Met) rs63750991
NM_016835.4(MAPT):c.256G>A (p.Gly86Ser) rs63751135
NM_016835.4(MAPT):c.54C>T (p.Tyr18=) rs63750811
NM_016835.4(MAPT):c.605C>T (p.Pro202Leu) rs63750417
NM_016835.4(MAPT):c.689A>G (p.Gln230Arg) rs63750072
NM_016835.4(MAPT):c.853G>A (p.Asp285Asn) rs62063786
NM_016835.4(MAPT):c.855C>T (p.Asp285=) rs63750222
NM_016835.4(MAPT):c.866T>C (p.Val289Ala) rs62063787

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