ClinVar Miner

List of variants studied for Alzheimer disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_227069589)_(227083300_?)del
NC_000021.7:g.13636378_28138533dup
NM_000021.3(PSEN1):c.-214T>G rs886050662
NM_000021.3(PSEN1):c.-226C>A rs200531676
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.3(PSEN1):c.-528C>G rs34086577
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*1147C>T rs165935
NM_000021.4(PSEN1):c.*119T>C rs201908084
NM_000021.4(PSEN1):c.*1360G>C rs886050667
NM_000021.4(PSEN1):c.*1380C>T rs181825217
NM_000021.4(PSEN1):c.*1381G>A rs362387
NM_000021.4(PSEN1):c.*1415C>A rs574671310
NM_000021.4(PSEN1):c.*1418G>A rs886050668
NM_000021.4(PSEN1):c.*1585A>T rs185405511
NM_000021.4(PSEN1):c.*1626C>A rs886050669
NM_000021.4(PSEN1):c.*1690T>C rs10143618
NM_000021.4(PSEN1):c.*1716_*1720TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1725A>G rs886050671
NM_000021.4(PSEN1):c.*1791A>T rs177412
NM_000021.4(PSEN1):c.*1792T>C rs886050672
NM_000021.4(PSEN1):c.*1867_*1870ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1874G>T rs141117435
NM_000021.4(PSEN1):c.*1958T>C rs779158922
NM_000021.4(PSEN1):c.*2108G>A rs368329004
NM_000021.4(PSEN1):c.*211G>A rs200186908
NM_000021.4(PSEN1):c.*2160C>T rs886050674
NM_000021.4(PSEN1):c.*2161G>A rs535590491
NM_000021.4(PSEN1):c.*2325A>G rs546052493
NM_000021.4(PSEN1):c.*2330G>T rs886050675
NM_000021.4(PSEN1):c.*23T>C rs886050664
NM_000021.4(PSEN1):c.*2401C>T rs886050676
NM_000021.4(PSEN1):c.*2430T>C rs362388
NM_000021.4(PSEN1):c.*2529G>T rs574941431
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2659A>T rs531711335
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*2836C>T rs886050678
NM_000021.4(PSEN1):c.*2864A>C rs362389
NM_000021.4(PSEN1):c.*2865C>A rs886050679
NM_000021.4(PSEN1):c.*3033_*3034CT[2] rs886050680
NM_000021.4(PSEN1):c.*313C>A rs362384
NM_000021.4(PSEN1):c.*3199C>T rs371718090
NM_000021.4(PSEN1):c.*3360A>G rs362390
NM_000021.4(PSEN1):c.*3495A>G rs141799841
NM_000021.4(PSEN1):c.*3525A>G rs362391
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3619A>G rs886050681
NM_000021.4(PSEN1):c.*3632G>A rs362393
NM_000021.4(PSEN1):c.*3637C>T rs114000457
NM_000021.4(PSEN1):c.*364T>C rs362385
NM_000021.4(PSEN1):c.*3722C>T rs362344
NM_000021.4(PSEN1):c.*3823G>A rs362394
NM_000021.4(PSEN1):c.*3848G>C rs886050682
NM_000021.4(PSEN1):c.*3889G>A rs17125952
NM_000021.4(PSEN1):c.*3941C>A rs144455736
NM_000021.4(PSEN1):c.*4030A>G rs186752250
NM_000021.4(PSEN1):c.*4078C>T rs533047073
NM_000021.4(PSEN1):c.*4095A>G rs369540718
NM_000021.4(PSEN1):c.*4147T>G rs362396
NM_000021.4(PSEN1):c.*4339T>C rs757221245
NM_000021.4(PSEN1):c.*4367T>C rs574271978
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*672G>A rs192897390
NM_000021.4(PSEN1):c.*71A>G rs201452973
NM_000021.4(PSEN1):c.*768A>G rs200194433
NM_000021.4(PSEN1):c.*947G>A rs7523
NM_000021.4(PSEN1):c.-180C>T rs200632899
NM_000021.4(PSEN1):c.-191C>T rs199680675
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
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.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) rs1566656702
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.1248+8T>C rs362382
NM_000021.4(PSEN1):c.1270C>G (p.Leu424Val)
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.1297C>T (p.Pro433Ser) rs1566657804
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys) rs281875357
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln) rs121917808
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824
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.337C>T (p.Leu113=) rs201500006
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)
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.401T>G (p.Leu134Arg)
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.424G>A (p.Val142Ile) rs1566630910
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.438G>A (p.Met146Ile) rs63750391
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.497T>C (p.Leu166Pro) rs63750265
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.510_511insTAT (p.Leu171_Leu172insTyr) rs1566638673
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del)
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met) rs63751144
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.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) rs63750009
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.737C>A (p.Ala246Glu) rs63750526
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.799C>T (p.Pro267Ser) rs63751229
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
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.856C>G (p.Leu286Val) rs63751235
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000447.2(PSEN2):c.*536G>A rs16846619
NM_000447.3(PSEN2):c.*103C>T rs571670427
NM_000447.3(PSEN2):c.*120G>A rs143059995
NM_000447.3(PSEN2):c.*132T>C rs186288674
NM_000447.3(PSEN2):c.*20G>A rs201399057
NM_000447.3(PSEN2):c.*270C>T rs8383
NM_000447.3(PSEN2):c.*306G>A rs145129440
NM_000447.3(PSEN2):c.*377C>T rs202160009
NM_000447.3(PSEN2):c.*405G>T rs116807339
NM_000447.3(PSEN2):c.*487G>C rs7962
NM_000447.3(PSEN2):c.*72T>C rs886046062
NM_000447.3(PSEN2):c.-144A>G rs886046061
NM_000447.3(PSEN2):c.-275C>T rs1295645
NM_000447.3(PSEN2):c.-278C>T rs199532840
NM_000447.3(PSEN2):c.-338A>G rs6665033
NM_000447.3(PSEN2):c.-356A>G rs12758915
NM_000447.3(PSEN2):c.-43C>T rs7961
NM_000447.3(PSEN2):c.-82T>C rs200607063
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) rs143227762
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773
NM_000447.3(PSEN2):c.241C>T (p.Leu81Phe)
NM_000447.3(PSEN2):c.254C>T (p.Ala85Val) rs63750048
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640
NM_000447.3(PSEN2):c.305T>C (p.Val102Ala)
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057
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.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) rs749301595
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.423C>T (p.Asn141=) rs116003409
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.3(PSEN2):c.487C>T (p.Arg163Cys)
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) rs28936379
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498
NM_000447.3(PSEN2):c.886+2_886+4del rs1553268799
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000484.3(APP):c.*1125T>G rs45599935
NM_000484.4(APP):c.*1015T>G rs202108412
NM_000484.4(APP):c.*194A>C rs199977643
NM_000484.4(APP):c.*590C>A rs45455403
NM_000484.4(APP):c.*735G>A rs202132811
NM_000484.4(APP):c.*913C>G rs202081585
NM_000484.4(APP):c.*914G>A rs736479
NM_000484.4(APP):c.*967G>A rs45541739
NM_000484.4(APP):c.*97C>A rs886056992
NM_000484.4(APP):c.-111G>C rs459543
NM_000484.4(APP):c.-132G>T rs886056998
NM_000484.4(APP):c.-44C>T rs200289921
NM_000484.4(APP):c.1030G>A (p.Ala344Thr)
NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln)
NM_000484.4(APP):c.1090+4C>T
NM_000484.4(APP):c.1090C>T (p.Leu364Phe)
NM_000484.4(APP):c.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1224+12T>C rs200725014
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049
NM_000484.4(APP):c.1280A>T (p.Asp427Val)
NM_000484.4(APP):c.1299+9T>C rs114675472
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578
NM_000484.4(APP):c.1458+9C>T rs201937048
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238
NM_000484.4(APP):c.1642C>G (p.Leu548Val) rs886056994
NM_000484.4(APP):c.1650C>T (p.Asn550=) rs201877705
NM_000484.4(APP):c.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262
NM_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157
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.2018C>T (p.Ala673Val) rs193922916
NM_000484.4(APP):c.2064+10A>T rs202051599
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
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.2124C>T (p.Gly708=) rs148888161
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065
NM_000484.4(APP):c.2137G>A (p.Ala713Thr) rs63750066
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.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>C (p.Val717Leu) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000484.4(APP):c.2150T>G (p.Val717Gly) rs63749964
NM_000484.4(APP):c.2212-10T>C rs45513597
NM_000484.4(APP):c.2212-12_2212-10del rs753046287
NM_000484.4(APP):c.225+14G>A rs199644062
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996
NM_000484.4(APP):c.298C>T (p.Arg100Trp)
NM_000484.4(APP):c.355+6C>T rs1555873548
NM_000484.4(APP):c.355+9G>A rs371324252
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619
NM_000484.4(APP):c.663-9C>A rs199587668
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873
NM_000484.4(APP):c.803G>A (p.Arg268Lys)
NM_000484.4(APP):c.819_821CAC[5] (p.Thr279_Thr280del)
NM_000484.4(APP):c.819_821CAC[8] (p.Thr280dup) rs527890624
NM_001080534.2(UNC13C):c.1324_1326del rs746069739
NM_001110.4(ADAM10):c.510G>C (p.Gln170His)
NM_001110.4(ADAM10):c.541A>G (p.Arg181Gly) rs145518263
NM_001136131.2(APP):c.-49+165G>A rs200621906
NM_001136131.2(APP):c.-49+166G>A rs761755102
NM_001136131.2(APP):c.-49+179G>T rs886056999
NM_001136131.2(APP):c.-49+195C>A rs538664273
NM_001136131.2(APP):c.-49+209G>C rs45476095
NM_001831.4(CLU):c.608C>T (p.Thr203Ile) rs41276297
NM_002087.3(GRN):c.264+1G>A rs1567885728
NM_005211.3(CSF1R):c.2326C>T (p.His776Tyr) rs1561905293
NM_005211.3(CSF1R):c.2671G>C (p.Ala891Pro) rs1561901881
NM_007126.5(VCP):c.409C>T (p.Pro137Ser) rs866101707
NM_012268.4(PLD3):c.694G>A (p.Val232Met) rs145999145
NM_012486.2(PSEN2):c.-400C>T rs186308126
NM_016835.4(MAPT):c.2035C>T (p.His679Tyr) rs1568339995
NM_032968.4(PCDH11X):c.2279A>T (p.Asp760Val) rs781770086
PSEN1, IVS4DS, 1-BP DEL, G
PSEN1, IVS8AS, G-T, -1
m.3397A>G rs199476120
nsv1067886

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