ClinVar Miner

List of variants reported as benign for Alzheimer disease

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983 0.76319
NM_000021.4(PSEN1):c.868+16G>T rs165932 0.61457
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_000447.3(PSEN2):c.1191+24G>A rs2855562 0.54601
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_000447.3(PSEN2):c.142-42G>A rs1295643 0.48629
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_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.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.1224+20C>T rs45543035 0.01021
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00856
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_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_000447.3(PSEN2):c.423C>T (p.Asn141=) rs116003409 0.00481
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
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_000021.3(PSEN1):c.-528C>G rs34086577 0.00339
NM_000484.4(APP):c.*914G>A rs736479 0.00338
NM_000021.4(PSEN1):c.*4030A>G rs186752250 0.00283
NM_000447.3(PSEN2):c.1200T>C (p.Cys400=) rs138494303 0.00248
NM_000021.4(PSEN1):c.*449T>C rs112911413 0.00206
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_000484.4(APP):c.826A>T (p.Thr276Ser) rs202198008 0.00176
NM_000021.4(PSEN1):c.321C>G (p.Thr107=) rs139863395 0.00150
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_000484.4(APP):c.1458+19G>A rs112732953 0.00109
NM_000484.4(APP):c.741C>T (p.Asp247=) rs148832151 0.00106
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_000484.4(APP):c.663-7T>C rs183084252 0.00089
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
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_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707 0.00050
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_000484.4(APP):c.1225-11T>A rs201326163 0.00034
NM_000484.4(APP):c.*724C>T rs146774213 0.00033
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353 0.00019
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000484.4(APP):c.1833A>G (p.Gly611=) rs200922667 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_000484.4(APP):c.225+7C>A rs201865168 0.00009
NM_000484.4(APP):c.786C>T (p.Tyr262=) rs140941257 0.00009
NM_000484.4(APP):c.975C>T (p.Gly325=) rs201622977 0.00006
NM_000021.4(PSEN1):c.138C>T (p.His46=) rs116882898 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000484.4(APP):c.890C>T (p.Thr297Met) rs557227002 0.00003
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val) rs1398951357 0.00001
NM_000484.4(APP):c.355+16G>A rs201791126 0.00001
NC_000014.9:g.73136378del rs148370307
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.1386C>T (p.Phe462=)
NM_000021.4(PSEN1):c.549-4dup rs763991845
NM_000021.4(PSEN1):c.843G>C (p.Thr281=) rs186495252
NM_000447.3(PSEN2):c.142-29T>C rs1295644
NM_000447.3(PSEN2):c.498+30G>C rs2236910
NM_000447.3(PSEN2):c.887-24T>C rs2802267
NM_000484.4(APP):c.1224+16C>A rs199585064
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.1770C>T (p.Asn590=)
NM_000484.4(APP):c.1848C>T (p.Asp616=)
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
NM_000484.4(APP):c.865+11A>G

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