ClinVar Miner

List of variants reported as uncertain significance for Alzheimer disease

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 432
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_012268.4(PLD3):c.694G>A (p.Val232Met) rs145999145 0.00365
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
NM_000041.4(APOE):c.137T>C (p.Leu46Pro) rs769452 0.00199
NM_000447.3(PSEN2):c.-82T>C rs200607063 0.00144
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000484.3(APP):c.-200G>A rs200621906 0.00100
NM_000447.3(PSEN2):c.*306G>A rs145129440 0.00086
NM_000021.4(PSEN1):c.*328C>T rs200067194 0.00074
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000021.4(PSEN1):c.*71A>G rs201452973 0.00053
NM_000021.4(PSEN1):c.-191C>T rs199680675 0.00053
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707 0.00050
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000447.3(PSEN2):c.-184C>T rs149590162 0.00048
NM_000021.4(PSEN1):c.-180C>T rs200632899 0.00046
NM_000484.4(APP):c.*489A>G rs199862130 0.00046
NM_000484.4(APP):c.663-9C>A rs199587668 0.00045
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.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.*1585A>T rs185405511 0.00035
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
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_000447.3(PSEN2):c.184C>T (p.Arg62Cys) rs150400387 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_000484.4(APP):c.*194A>C rs199977643 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr) rs148238688 0.00014
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 0.00014
NM_000021.4(PSEN1):c.*1316G>T rs909535762 0.00013
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000447.3(PSEN2):c.*103C>T rs571670427 0.00013
NM_000447.3(PSEN2):c.*378G>C rs200173939 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000447.3(PSEN2):c.1330C>T (p.His444Tyr) rs151048692 0.00011
NM_000447.3(PSEN2):c.956A>G (p.Tyr319Cys) rs547494670 0.00011
NM_000484.4(APP):c.*454A>G rs200492624 0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579 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_000447.3(PSEN2):c.*377C>T rs202160009 0.00010
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 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_000447.3(PSEN2):c.*20G>A rs201399057 0.00009
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.337C>T (p.Leu113=) rs201500006 0.00006
NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) rs201922151 0.00006
NM_000484.4(APP):c.-132G>T rs886056998 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 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_000447.3(PSEN2):c.*132T>C rs186288674 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000484.4(APP):c.1726G>A (p.Val576Ile) rs200769792 0.00005
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000484.4(APP):c.885C>T (p.Ala295=) rs199890425 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.*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.566A>G (p.Tyr189Cys) rs556147068 0.00004
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg) rs115865530 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000447.3(PSEN2):c.*284T>A rs199645229 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys) rs200931244 0.00004
NM_000447.3(PSEN2):c.80C>T (p.Thr27Met) rs149354305 0.00004
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys) rs142892469 0.00004
NM_000484.4(APP):c.*355A>G rs939934369 0.00004
NM_000484.4(APP):c.1406G>A (p.Arg469His) rs199549173 0.00004
NM_000484.4(APP):c.1751C>G (p.Pro584Arg) rs145371658 0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000484.4(APP):c.298C>T (p.Arg100Trp) rs200347552 0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn) rs750279232 0.00004
NM_000484.4(APP):c.917G>A (p.Arg306His) rs202218688 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.21G>A (p.Pro7=) rs116466962 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) rs199547508 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000484.4(APP):c.*1015T>G rs202108412 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000484.4(APP):c.46C>T (p.Arg16Trp) rs202070273 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000447.3(PSEN2):c.1160C>T (p.Thr387Ile) rs867544084 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773 0.00002
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met) rs144277432 0.00002
NM_000447.3(PSEN2):c.928T>C (p.Ser310Pro) rs781436525 0.00002
NM_000484.4(APP):c.1034-6C>G rs767889396 0.00002
NM_000484.4(APP):c.1463G>A (p.Arg488His) rs200587958 0.00002
NM_000484.4(APP):c.1775C>T (p.Ala592Val) rs754790092 0.00002
NM_000484.4(APP):c.1957C>A (p.Arg653=) rs370979414 0.00002
NM_000484.4(APP):c.574G>A (p.Glu192Lys) rs759517529 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_001145118.2(GRID2IP):c.429+2T>G rs1413118387 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.178C>T (p.Arg60Trp) rs777427451 0.00001
NM_000021.4(PSEN1):c.280G>A (p.Val94Met) rs63750831 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.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000447.3(PSEN2):c.*210G>A rs200296479 0.00001
NM_000447.3(PSEN2):c.*72T>C rs886046062 0.00001
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) rs756609078 0.00001
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala) rs765144719 0.00001
NM_000447.3(PSEN2):c.401G>A (p.Arg134His) rs756346917 0.00001
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) rs749301595 0.00001
NM_000447.3(PSEN2):c.442G>A (p.Val148Ile) rs63750812 0.00001
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_000447.3(PSEN2):c.482A>G (p.Lys161Arg) rs755101354 0.00001
NM_000447.3(PSEN2):c.683A>T (p.Gln228Leu) rs63750880 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000447.3(PSEN2):c.887-3C>T rs1230394996 0.00001
NM_000447.3(PSEN2):c.927C>T (p.Pro309=) rs200326485 0.00001
NM_000484.4(APP):c.*289C>T rs199534609 0.00001
NM_000484.4(APP):c.*356T>G rs1445554583 0.00001
NM_000484.4(APP):c.1008C>T (p.Tyr336=) rs772676633 0.00001
NM_000484.4(APP):c.1030G>A (p.Ala344Thr) rs201045185 0.00001
NM_000484.4(APP):c.1076G>A (p.Arg359Gln) rs1057524107 0.00001
NM_000484.4(APP):c.1090+4C>T rs532690231 0.00001
NM_000484.4(APP):c.1123G>A (p.Val375Ile) rs141331202 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049 0.00001
NM_000484.4(APP):c.130C>T (p.His44Tyr) rs774281569 0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000484.4(APP):c.1454C>T (p.Pro485Leu) rs369990738 0.00001
NM_000484.4(APP):c.1651G>A (p.Val551Met) rs761339914 0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val) rs773379255 0.00001
NM_000484.4(APP):c.1814A>G (p.Glu605Gly) rs748980864 0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363 0.00001
NM_000484.4(APP):c.2064+10A>T rs202051599 0.00001
NM_000484.4(APP):c.2281A>G (p.Thr761Ala) rs766455623 0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996 0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu) rs950592627 0.00001
NM_000484.4(APP):c.533A>G (p.Lys178Arg) rs758637653 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
NM_000484.4(APP):c.820A>G (p.Thr274Ala) rs200159151 0.00001
NM_000484.4(APP):c.964G>A (p.Gly322Ser) rs866061394 0.00001
NC_000021.8:g.(?_27253981)_(27277409_?)del
NC_000021.8:g.(?_27462239)_(27542938_?)dup
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
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.*360A>C rs202176028
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.-201A>C rs1896745950
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg) rs138871096
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.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.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.123A>T (p.Arg41Ser)
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val) rs777734426
NM_000021.4(PSEN1):c.1249-6C>A
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
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.256T>C (p.Phe86Leu)
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr) rs1897874234
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser) rs1007193620
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
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.466T>C (p.Tyr156His)
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His) rs1897961716
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.491C>A (p.Ala164Asp)
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr) rs63750577
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del) rs1595026031
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro) rs63750155
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr) rs2140093212
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
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.768T>C (p.Tyr256=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
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.821C>G (p.Thr274Arg) rs63750284
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
NM_000021.4(PSEN1):c.869-3C>A rs2140125016
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
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.955A>T (p.Ser319Cys) rs2140125296
NM_000041.4(APOE):c.-24+82G>A
NM_000250.2(MPO):c.1031G>A (p.Gly344Asp) rs1970460686
NM_000447.3(PSEN2):c.*479G>T rs201177570
NM_000447.3(PSEN2):c.-136G>A rs1660571955
NM_000447.3(PSEN2):c.-144A>G rs886046061
NM_000447.3(PSEN2):c.-278C>A rs199532840
NM_000447.3(PSEN2):c.-278C>T rs199532840
NM_000447.3(PSEN2):c.1009C>T (p.Pro337Ser)
NM_000447.3(PSEN2):c.1040_1041del (p.Tyr347fs)
NM_000447.3(PSEN2):c.1046G>A (p.Gly349Glu) rs2102690580
NM_000447.3(PSEN2):c.1073-10C>G
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met) rs143912759
NM_000447.3(PSEN2):c.1240C>T (p.Pro414Ser)
NM_000447.3(PSEN2):c.1243G>A (p.Ala415Thr)
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) rs1387034807
NM_000447.3(PSEN2):c.1307C>T (p.Pro436Leu)
NM_000447.3(PSEN2):c.139T>G (p.Trp47Gly) rs2102668369
NM_000447.3(PSEN2):c.165C>A (p.Asp55Glu)
NM_000447.3(PSEN2):c.194G>A (p.Cys65Tyr)
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe) rs1405799988
NM_000447.3(PSEN2):c.260_261delinsTT (p.His87Leu)
NM_000447.3(PSEN2):c.260_261inv (p.His87Arg)
NM_000447.3(PSEN2):c.277G>A (p.Val93Met) rs2102672691
NM_000447.3(PSEN2):c.298A>G (p.Ile100Val) rs1182707759
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala) rs1571951543
NM_000447.3(PSEN2):c.328C>T (p.Arg110Cys)
NM_000447.3(PSEN2):c.348T>A (p.Asn116Lys)
NM_000447.3(PSEN2):c.349G>A (p.Gly117Arg)
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.427C>T (p.Leu143Phe)
NM_000447.3(PSEN2):c.436A>T (p.Ile146Phe)
NM_000447.3(PSEN2):c.499-10T>C
NM_000447.3(PSEN2):c.499-15A>G
NM_000447.3(PSEN2):c.539T>C (p.Leu180Pro)
NM_000447.3(PSEN2):c.566G>C (p.Gly189Ala)
NM_000447.3(PSEN2):c.589G>A (p.Val197Met)
NM_000447.3(PSEN2):c.622G>A (p.Val208Ile)
NM_000447.3(PSEN2):c.671C>T (p.Pro224Leu) rs2102684411
NM_000447.3(PSEN2):c.713T>C (p.Leu238Pro)
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) rs371562367
NM_000447.3(PSEN2):c.81_82delinsAA (p.Pro28Thr) rs2102668085
NM_000447.3(PSEN2):c.842C>A (p.Ala281Asp)
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) rs1208742830
NM_000447.3(PSEN2):c.864A>G (p.Ile288Met)
NM_000447.3(PSEN2):c.877A>T (p.Ile293Leu)
NM_000447.3(PSEN2):c.880T>G (p.Tyr294Asp)
NM_000447.3(PSEN2):c.893T>C (p.Met298Thr)
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000447.3(PSEN2):c.970+3_970+6del rs775692311
NM_000484.3(APP):c.-170C>A rs538664273
NM_000484.3(APP):c.-186G>T rs886056999
NM_000484.4(APP):c.*521T>C rs2036961192
NM_000484.4(APP):c.*735G>A rs202132811
NM_000484.4(APP):c.*7G>A rs201922766
NM_000484.4(APP):c.*810C>T rs2036941224
NM_000484.4(APP):c.*97C>A rs886056992
NM_000484.4(APP):c.-111G>T rs459543
NM_000484.4(APP):c.1000G>C (p.Glu334Gln)
NM_000484.4(APP):c.1018G>T (p.Val340Leu)
NM_000484.4(APP):c.1021_1033+438del
NM_000484.4(APP):c.1035G>T (p.Met345Ile)
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
NM_000484.4(APP):c.1066C>G (p.Pro356Ala)
NM_000484.4(APP):c.1072G>C (p.Ala358Pro) rs1008281141
NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln) rs1601155187
NM_000484.4(APP):c.1090+5G>A
NM_000484.4(APP):c.1090C>T (p.Leu364Phe) rs749453173
NM_000484.4(APP):c.1190G>A (p.Arg397Lys) rs913378009
NM_000484.4(APP):c.1199C>T (p.Ala400Val) rs1334791875
NM_000484.4(APP):c.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1264A>C (p.Asn422His) rs2146575525
NM_000484.4(APP):c.1280A>T (p.Asp427Val) rs1358953437
NM_000484.4(APP):c.1288G>A (p.Ala430Thr)
NM_000484.4(APP):c.1300-11T>G
NM_000484.4(APP):c.1300-3C>A rs1342453998
NM_000484.4(APP):c.1345G>A (p.Glu449Lys)
NM_000484.4(APP):c.1366A>G (p.Thr456Ala)
NM_000484.4(APP):c.1369C>T (p.His457Tyr)
NM_000484.4(APP):c.1457G>A (p.Arg486Gln) rs200268317
NM_000484.4(APP):c.1462C>T (p.Arg488Cys) rs2146493615
NM_000484.4(APP):c.1475A>G (p.Asn492Ser)
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
NM_000484.4(APP):c.1530G>C (p.Lys510Asn) rs767201930
NM_000484.4(APP):c.1570G>A (p.Ala524Thr)
NM_000484.4(APP):c.1587+6C>T
NM_000484.4(APP):c.15G>C (p.Leu5Phe)
NM_000484.4(APP):c.1612T>C (p.Tyr538His)
NM_000484.4(APP):c.1641G>T (p.Leu547=) rs199860711
NM_000484.4(APP):c.1642C>G (p.Leu548Val) rs886056994
NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)
NM_000484.4(APP):c.1649A>G (p.Asn550Ser)
NM_000484.4(APP):c.1658C>T (p.Ala553Val) rs2146488766
NM_000484.4(APP):c.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.1680T>A (p.Asp560Glu)
NM_000484.4(APP):c.1684G>A (p.Val562Ile) rs199586073
NM_000484.4(APP):c.1748A>G (p.Glu583Gly) rs778495527
NM_000484.4(APP):c.1750C>G (p.Pro584Ala)
NM_000484.4(APP):c.1754G>A (p.Arg585Lys) rs1265765015
NM_000484.4(APP):c.1909+5G>A
NM_000484.4(APP):c.1916C>A (p.Pro639His) rs771964280
NM_000484.4(APP):c.1978A>T (p.Asn660Tyr) rs770773038
NM_000484.4(APP):c.1979A>G (p.Asn660Ser)
NM_000484.4(APP):c.1988C>T (p.Thr663Met)
NM_000484.4(APP):c.1996A>T (p.Ile666Phe)
NM_000484.4(APP):c.2012T>C (p.Met671Thr) rs2038161468
NM_000484.4(APP):c.2047G>A (p.Val683Ile)
NM_000484.4(APP):c.205A>G (p.Ile69Val)
NM_000484.4(APP):c.2064+4C>T
NM_000484.4(APP):c.2086G>A (p.Gly696Ser)
NM_000484.4(APP):c.2106C>G (p.Ile702Met)
NM_000484.4(APP):c.2175G>C (p.Lys725Asn) rs1569014114
NM_000484.4(APP):c.2240G>A (p.Arg747His)
NM_000484.4(APP):c.2253G>C (p.Lys751Asn) rs1381242897
NM_000484.4(APP):c.225A>G (p.Glu75=)
NM_000484.4(APP):c.226-3C>T
NM_000484.4(APP):c.2267G>A (p.Gly756Asp) rs2146193044
NM_000484.4(APP):c.2285A>T (p.Tyr762Phe) rs373482247
NM_000484.4(APP):c.347G>A (p.Arg116His) rs2061787725
NM_000484.4(APP):c.355+6C>T rs1555873548
NM_000484.4(APP):c.419G>C (p.Arg140Thr)
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
NM_000484.4(APP):c.446A>G (p.His149Arg)
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.496C>T (p.His166Tyr)
NM_000484.4(APP):c.534G>T (p.Lys178Asn)
NM_000484.4(APP):c.563C>T (p.Pro188Leu)
NM_000484.4(APP):c.565C>A (p.Leu189Met)
NM_000484.4(APP):c.58-3C>T
NM_000484.4(APP):c.583A>G (p.Asn195Asp) rs2146905389
NM_000484.4(APP):c.584A>G (p.Asn195Ser)
NM_000484.4(APP):c.634G>A (p.Gly212Arg)
NM_000484.4(APP):c.713AAG[3] (p.Glu241del) rs754150568
NM_000484.4(APP):c.713AAG[5] (p.Glu241_Ala242insGlu)
NM_000484.4(APP):c.732T>A (p.Asp244Glu) rs2146780434
NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del) rs1398952170
NM_000484.4(APP):c.751G>A (p.Gly251Ser) rs2044360130
NM_000484.4(APP):c.781C>T (p.Pro261Ser)
NM_000484.4(APP):c.803G>A (p.Arg268Lys) rs1601237753
NM_000484.4(APP):c.809C>T (p.Thr270Ile)
NM_000484.4(APP):c.819CAC[5] (p.Thr279_Thr280del) rs527890624
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup) rs527890624
NM_000484.4(APP):c.865+3A>G rs2146779425
NM_000484.4(APP):c.866-3T>C rs2043232394
NM_000484.4(APP):c.881A>G (p.Gln294Arg) rs1371336849
NM_000484.4(APP):c.901C>G (p.Arg301Gly)
NM_000484.4(APP):c.966C>G (p.Gly322=) rs200016837
NM_000484.4(APP):c.976G>A (p.Gly326Ser)
NM_000603.5(NOS3):c.1052C>T (p.Ala351Val) rs1795021746
NM_000603.5(NOS3):c.2356G>A (p.Gly786Arg)
NM_001080534.3(UNC13C):c.1326GAA[1] (p.Lys443del) rs746069739
NM_003985.6(TNK1):c.393C>G (p.His131Gln) rs767381816
NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp) rs752156828
NM_020821.3(VPS13C):c.1988del (p.Thr663fs) rs1019238429
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu) rs140152371

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