ClinVar Miner

List of variants in gene PSEN1 studied for dementia

Included ClinVar conditions (242):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 371
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NC_000014.9:g.73136423C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.*2864A>C rs362389 0.05717
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.*3637C>T rs114000457 0.01606
NM_000021.4(PSEN1):c.*3360A>G rs362390 0.01605
NM_000021.4(PSEN1):c.*3525A>G rs362391 0.01605
NM_000021.4(PSEN1):c.*1690T>C rs10143618 0.01604
NM_000021.4(PSEN1):c.*2430T>C rs362388 0.01604
NM_000021.4(PSEN1):c.*3823G>A rs362394 0.01595
NM_000021.4(PSEN1):c.*4147T>G rs362396 0.01523
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_000021.4(PSEN1):c.*3566A>G rs74061007 0.00746
NM_000021.4(PSEN1):c.*3358A>G rs74061006 0.00741
NM_000021.4(PSEN1):c.*1791A>T rs177412 0.00446
NC_000014.9:g.73136191C>G rs34086577 0.00339
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_000021.4(PSEN1):c.*4030A>G rs186752250 0.00283
NM_000021.4(PSEN1):c.*3941C>A rs144455736 0.00276
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NM_000021.4(PSEN1):c.*449T>C rs112911413 0.00206
NM_000021.4(PSEN1):c.*2108G>A rs368329004 0.00187
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_000021.4(PSEN1):c.*3508G>A rs150550252 0.00137
NM_000021.4(PSEN1):c.*4113G>A rs190718487 0.00125
NM_000021.4(PSEN1):c.*166T>A rs192302611 0.00080
NM_000021.4(PSEN1):c.*328C>T rs200067194 0.00074
NM_000021.4(PSEN1):c.*71A>G rs201452973 0.00053
NM_000021.4(PSEN1):c.-191C>T rs199680675 0.00053
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
NM_000021.4(PSEN1):c.-180C>T rs200632899 0.00046
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000021.4(PSEN1):c.*3848G>C rs886050682 0.00039
NM_000021.4(PSEN1):c.*2604C>T rs773295728 0.00038
NM_000021.4(PSEN1):c.*3328C>G rs181726819 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.*1585A>T rs185405511 0.00035
NM_000021.4(PSEN1):c.*2529G>T rs574941431 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.*2659A>T rs531711335 0.00029
NM_000021.4(PSEN1):c.*4078C>T rs533047073 0.00029
NM_000021.4(PSEN1):c.*4367T>C rs574271978 0.00028
NM_000021.4(PSEN1):c.*2325A>G rs546052493 0.00026
NM_000021.4(PSEN1):c.*768A>G rs200194433 0.00025
NM_000021.4(PSEN1):c.*3130C>T rs550055242 0.00023
NM_000021.4(PSEN1):c.*1625A>G rs750857788 0.00020
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000021.4(PSEN1):c.*1316G>T rs909535762 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000021.3(PSEN1):c.-226C>A rs200531676 0.00010
NM_000021.4(PSEN1):c.*1418G>A rs886050668 0.00010
NM_000021.4(PSEN1):c.*2865C>A rs886050679 0.00010
NM_000021.4(PSEN1):c.*1980C>T rs188214574 0.00009
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344 0.00008
NM_000021.4(PSEN1):c.480+17G>A rs375376095 0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000021.4(PSEN1):c.*1874G>T rs141117435 0.00007
NM_000021.4(PSEN1):c.*265A>G rs199643125 0.00007
NM_000021.4(PSEN1):c.*2846G>A rs370528248 0.00007
NM_000021.4(PSEN1):c.*1380C>T rs181825217 0.00006
NM_000021.4(PSEN1):c.*1725A>G rs886050671 0.00006
NM_000021.4(PSEN1):c.*211G>A rs200186908 0.00006
NM_000021.4(PSEN1):c.*2161G>A rs535590491 0.00006
NM_000021.4(PSEN1):c.*229C>T rs199738569 0.00006
NM_000021.4(PSEN1):c.*2543C>T rs138620990 0.00006
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_000021.4(PSEN1):c.*119T>C rs201908084 0.00005
NM_000021.4(PSEN1):c.*3789G>A rs867100875 0.00005
NM_000021.4(PSEN1):c.*4338A>G rs1032264220 0.00005
NM_000021.3(PSEN1):c.-214T>G rs886050662 0.00004
NM_000021.4(PSEN1):c.*1415C>A rs574671310 0.00004
NM_000021.4(PSEN1):c.*1889A>G rs1220105113 0.00004
NM_000021.4(PSEN1):c.*2017A>T rs538178628 0.00004
NM_000021.4(PSEN1):c.*2401C>T rs886050676 0.00004
NM_000021.4(PSEN1):c.*3199C>T rs371718090 0.00004
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
NM_000021.4(PSEN1):c.*1792T>C rs886050672 0.00003
NM_000021.4(PSEN1):c.*1958T>C rs779158922 0.00003
NM_000021.4(PSEN1):c.*2160C>T rs886050674 0.00003
NM_000021.4(PSEN1):c.*2330G>T rs886050675 0.00003
NM_000021.4(PSEN1):c.*2836C>T rs886050678 0.00003
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val) rs764971634 0.00002
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=) rs201453174 0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) rs199637432 0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) rs757698754 0.00002
NM_000021.4(PSEN1):c.*1626C>A rs886050669 0.00001
NM_000021.4(PSEN1):c.*2357T>A rs1250635285 0.00001
NM_000021.4(PSEN1):c.*23T>C rs886050664 0.00001
NM_000021.4(PSEN1):c.*3619A>G rs886050681 0.00001
NM_000021.4(PSEN1):c.*3669G>A rs748848893 0.00001
NM_000021.4(PSEN1):c.*4339T>C rs757221245 0.00001
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly) rs1018763711 0.00001
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=) rs1899950667 0.00001
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr) rs63750227 0.00001
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala) rs771002035 0.00001
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val) rs747363386 0.00001
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile) rs750585566 0.00001
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu) rs543391977 0.00001
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln) rs763831389 0.00001
NM_000021.4(PSEN1):c.784T>C (p.Leu262=) rs1369926746 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NC_000014.8:g.(?_73673074)_(73673200_?)del
NC_000014.8:g.(?_73683814)_(73685997_?)dup
NC_000014.9:g.73136378del rs148370307
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*1484A>C rs147866042
NM_000021.4(PSEN1):c.*1716TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1858T>A rs1943770310
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1884G>T rs1900111689
NM_000021.4(PSEN1):c.*1910A>G rs1900112018
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2695G>A rs1900127252
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*3033CT[2] rs886050680
NM_000021.4(PSEN1):c.*3321G>C rs983079104
NM_000021.4(PSEN1):c.*3484A>C rs1900141899
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.*400G>A rs1190503987
NM_000021.4(PSEN1):c.*438C>T rs1900072345
NM_000021.4(PSEN1):c.*562T>C rs1594760800
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*657C>T rs201752111
NM_000021.4(PSEN1):c.*801C>T rs201513640
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.-201A>C rs1896745950
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro) rs63751174
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu) rs1019919048
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp) rs1555357544
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) rs63750323
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val) rs63750687
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) rs63750687
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp) rs1566656647
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
NM_000021.4(PSEN1):c.1163T>C (p.Phe388Ser)
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.1177G>T (p.Val393Phe) rs1566656702
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
NM_000021.4(PSEN1):c.118_120del (p.Asp40del) rs759538127
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr) rs2140145565
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val) rs1555358260
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val) rs63750083
NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) rs1566657804
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val)
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn) rs1900050658
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val) rs1430581353
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys) rs1594998354
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg) rs1897874329
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) rs63751141
NM_000021.4(PSEN1):c.300dup (p.Lys101Ter) rs2140037322
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly) rs1897876766
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys) rs1057518919
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.338+1del rs63751475
NM_000021.4(PSEN1):c.338+7A>G rs1897878139
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
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.352T>G (p.Phe118Val)
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp) rs63751272
NM_000021.4(PSEN1):c.364A>G (p.Thr122Ala) rs1566630811
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln) rs63750378
NM_000021.4(PSEN1):c.375G>C (p.Val125=) rs1897955823
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg) rs1595002439
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.409G>A (p.Ala137Thr) rs1566630884
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.424G>A (p.Val142Ile) rs1566630910
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) rs63750306
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.437T>C (p.Met146Thr)
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.438G>C (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile) rs1898533490
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
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.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) rs63750265
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.510_511insTAT (p.Ser170_Leu171insTyr) rs1566638673
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
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.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) rs63750082
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu) rs63750053
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.640C>A (p.His214Asn) rs63751003
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg) rs267606983
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) rs63750009
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys) rs1898776259
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr) rs63749836
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) rs63751024
NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu) rs63750858
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe) rs1362575880
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser) rs63751163
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe) rs1898781850
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala) rs199723282
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) rs121917807
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr) rs63751229
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
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.808A>G (p.Met270Val)
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr) rs1899028511
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.832A>G (p.Arg278Gly)
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys) rs2140105309
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) rs186495252
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
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.868+16_868+21del
NM_000021.4(PSEN1):c.869-1624_956-2452del
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000021.4(PSEN1):c.869-1G>T rs63750219
NM_000021.4(PSEN1):c.869-2A>G
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.869-3C>A rs2140125016
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala) rs1594750510
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
NM_000021.4(PSEN1):c.918A>C (p.Gln306His) rs1256981707
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys) rs2140125296
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)

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