ClinVar Miner

List of variants studied for Alzheimer disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000447.3(PSEN2):c.-356A>G rs12758915 0.49997
NM_000447.3(PSEN2):c.*270C>T rs8383 0.49189
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_000447.3(PSEN2):c.-275C>T rs1295645 0.15385
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_000484.4(APP):c.-111G>C rs459543 0.08614
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000447.3(PSEN2):c.-43C>T rs7961 0.08031
NM_000021.3(PSEN1):c.-296C>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_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000447.2(PSEN2):c.*536G>A rs16846619 0.02363
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_000447.3(PSEN2):c.-338A>G rs6665033 0.01457
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_000447.3(PSEN2):c.*487G>C rs7962 0.01294
NM_000484.4(APP):c.1299+9T>C rs114675472 0.01268
NM_000484.4(APP):c.*590C>A rs45455403 0.00936
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00856
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_000484.3(APP):c.-156G>C rs45476095 0.00751
NM_000021.4(PSEN1):c.*3566A>G rs74061007 0.00746
NM_000021.4(PSEN1):c.*3358A>G rs74061006 0.00741
NM_000484.4(APP):c.*967G>A rs45541739 0.00669
NM_000484.3(APP):c.*1125T>G rs45599935 0.00640
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_000447.3(PSEN2):c.*405G>T rs116807339 0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000447.2(PSEN2):c.-400C>T rs186308126 0.00465
NM_000021.4(PSEN1):c.*1791A>T rs177412 0.00446
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) rs143227762 0.00413
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000484.4(APP):c.*914G>A rs736479 0.00338
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_000484.4(APP):c.*372A>G rs187940037 0.00231
NM_000447.3(PSEN2):c.*120G>A rs143059995 0.00226
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_000447.3(PSEN2):c.-82T>C rs200607063 0.00144
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000021.4(PSEN1):c.*3508G>A rs150550252 0.00137
NM_000021.4(PSEN1):c.*4113G>A rs190718487 0.00125
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_000484.3(APP):c.-200G>A rs200621906 0.00100
NM_000484.4(APP):c.*624A>G rs199680232 0.00100
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_000484.4(APP):c.-44C>T rs200289921 0.00093
NM_000447.3(PSEN2):c.*306G>A rs145129440 0.00086
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
NM_000021.4(PSEN1):c.*166T>A rs192302611 0.00080
NM_000021.4(PSEN1):c.*328C>T rs200067194 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
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.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
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_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 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_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000484.4(APP):c.*724C>T rs146774213 0.00033
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_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016 0.00022
NM_000021.4(PSEN1):c.*1625A>G rs750857788 0.00020
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353 0.00019
NM_000484.4(APP):c.*194A>C rs199977643 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 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_000447.3(PSEN2):c.*103C>T rs571670427 0.00013
NM_000447.3(PSEN2):c.*378G>C rs200173939 0.00013
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000484.4(APP):c.*738T>C rs201621005 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000484.4(APP):c.*454A>G rs200492624 0.00011
NM_000484.4(APP):c.225+14G>A rs199644062 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_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_000021.4(PSEN1):c.*1980C>T rs188214574 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.*2543C>T rs138620990 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_000447.3(PSEN2):c.639A>G (p.Ala213=) rs555809980 0.00006
NM_000484.4(APP):c.-132G>T rs886056998 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 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_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.*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_000447.3(PSEN2):c.*284T>A rs199645229 0.00004
NM_000484.4(APP):c.*355A>G rs939934369 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.727G>A (p.Asp243Asn) rs750279232 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.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.*663C>T rs572356515 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773 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_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.1167C>T (p.Tyr389=) rs1899950667 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_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.410A>G (p.Asn137Ser) rs749301595 0.00001
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) rs202003390 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.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049 0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578 0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val) rs773379255 0.00001
NM_000484.4(APP):c.2064+10A>T rs202051599 0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
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.-201A>C rs1896745950
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.375G>C (p.Val125=) rs1897955823
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) rs186495252
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.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) rs1387034807
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) rs371562367
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
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.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1530G>C (p.Lys510Asn) rs767201930
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.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.2012T>C (p.Met671Thr) rs2038161468
NM_000484.4(APP):c.2175G>C (p.Lys725Asn) rs1569014114
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.751G>A (p.Gly251Ser) rs2044360130
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.881A>G (p.Gln294Arg) rs1371336849
NM_000484.4(APP):c.966C>G (p.Gly322=) rs200016837

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