ClinVar Miner

List of variants reported as likely benign for Alzheimer disease by Invitae

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 253
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
NC_000021.9:g.26171301C>T rs187510057 0.00096
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 0.00041
NM_000484.4(APP):c.226G>A (p.Val76Ile) rs151188448 0.00039
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000484.4(APP):c.225+19C>G rs55661697 0.00032
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
NM_000447.3(PSEN2):c.753C>T (p.Ser251=) rs200332829 0.00026
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016 0.00022
NM_000484.4(APP):c.1800G>A (p.Thr600=) rs138434918 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_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_000484.4(APP):c.1794C>T (p.Thr598=) rs201817181 0.00018
NM_000447.3(PSEN2):c.66G>A (p.Ser22=) rs367645069 0.00017
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 0.00014
NM_000447.3(PSEN2):c.165C>T (p.Asp55=) rs139332886 0.00013
NM_000447.3(PSEN2):c.207C>T (p.Pro69=) rs142546082 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000447.3(PSEN2):c.1163C>T (p.Thr388Met) rs143549266 0.00011
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 0.00010
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000484.4(APP):c.1248A>G (p.Ala416=) rs556540232 0.00009
NM_000484.4(APP):c.57+16C>T rs201003643 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_000484.4(APP):c.1091-18T>G rs201718786 0.00008
NM_000484.4(APP):c.1650C>T (p.Asn550=) rs201877705 0.00007
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_000447.3(PSEN2):c.639A>G (p.Ala213=) rs555809980 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
NM_000484.4(APP):c.1790T>G (p.Leu597Trp) rs765301301 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_000484.4(APP):c.885C>T (p.Ala295=) rs199890425 0.00005
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) rs533813519 0.00004
NM_000484.4(APP):c.1024G>A (p.Gly342Ser) rs200727285 0.00004
NM_000484.4(APP):c.1809C>T (p.Thr603=) rs150151009 0.00004
NM_000484.4(APP):c.186C>T (p.Cys62=) rs201970902 0.00004
NM_000484.4(APP):c.2020G>C (p.Glu674Gln) rs752361848 0.00004
NM_000484.4(APP):c.417G>A (p.Glu139=) rs779803206 0.00004
NM_000484.4(APP):c.58-11T>G rs200974058 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_000447.3(PSEN2):c.1011C>T (p.Pro337=) rs769386876 0.00003
NM_000447.3(PSEN2):c.156C>T (p.Asn52=) rs749675208 0.00003
NM_000484.4(APP):c.1033+19G>A rs764443273 0.00003
NM_000484.4(APP):c.1137C>T (p.Leu379=) rs199526286 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.1665C>T (p.Ala555=) rs200846684 0.00003
NM_000484.4(APP):c.1722T>C (p.Asp574=) rs201794320 0.00003
NM_000484.4(APP):c.1849G>A (p.Asp617Asn) rs201479601 0.00003
NM_000484.4(APP):c.225+13C>T rs200888218 0.00003
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_000447.3(PSEN2):c.177C>T (p.Asp59=) rs767577993 0.00002
NM_000447.3(PSEN2):c.279G>C (p.Val93=) rs200350640 0.00002
NM_000447.3(PSEN2):c.390G>C (p.Ser130=) rs781597971 0.00002
NM_000484.4(APP):c.1688-4T>G rs374277868 0.00002
NM_000484.4(APP):c.1860G>A (p.Pro620=) rs773060369 0.00002
NM_000484.4(APP):c.504C>T (p.Tyr168=) rs752661056 0.00002
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NM_000447.3(PSEN2):c.1140G>A (p.Thr380=) rs377494557 0.00001
NM_000447.3(PSEN2):c.1269G>A (p.Gly423=) rs748435174 0.00001
NM_000447.3(PSEN2):c.1284C>T (p.Phe428=) rs144318314 0.00001
NM_000447.3(PSEN2):c.201G>C (p.Gly67=) rs1661152624 0.00001
NM_000447.3(PSEN2):c.273G>C (p.Leu91=) rs921254742 0.00001
NM_000447.3(PSEN2):c.372C>T (p.Phe124=) rs753371172 0.00001
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) rs202003390 0.00001
NM_000447.3(PSEN2):c.787+8G>A rs751014475 0.00001
NM_000484.4(APP):c.1122C>T (p.Ala374=) rs780257087 0.00001
NM_000484.4(APP):c.1210G>C (p.Glu404Gln) rs201668897 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.1350A>G (p.Arg450=) rs746537655 0.00001
NM_000484.4(APP):c.1450C>T (p.Pro484Ser) rs768238394 0.00001
NM_000484.4(APP):c.1467C>T (p.His489=) rs1214877315 0.00001
NM_000484.4(APP):c.1580G>A (p.Arg527Gln) rs201466202 0.00001
NM_000484.4(APP):c.1799C>T (p.Thr600Met) rs200088099 0.00001
NM_000484.4(APP):c.1827G>C (p.Val609=) rs201858248 0.00001
NM_000484.4(APP):c.19C>G (p.Leu7Val) rs767211549 0.00001
NM_000484.4(APP):c.2004A>G (p.Glu668=) rs1459466429 0.00001
NM_000484.4(APP):c.2070C>T (p.Phe690=) rs201724975 0.00001
NM_000484.4(APP):c.2139G>A (p.Ala713=) rs749919142 0.00001
NM_000484.4(APP):c.302G>A (p.Gly101Asp) rs532382285 0.00001
NM_000484.4(APP):c.33C>T (p.Ala11=) rs754674097 0.00001
NM_000484.4(APP):c.44C>T (p.Ala15Val) rs913925398 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
NM_000484.4(APP):c.735C>T (p.Asp245=) rs201941279 0.00001
NM_000484.4(APP):c.736G>A (p.Glu246Lys) rs147485129 0.00001
NM_000484.4(APP):c.762A>G (p.Val254=) rs1386522903 0.00001
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
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.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1130-13del
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.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_000447.3(PSEN2):c.1005A>G (p.Ser335=)
NM_000447.3(PSEN2):c.1005A>T (p.Ser335=)
NM_000447.3(PSEN2):c.1023G>A (p.Glu341=)
NM_000447.3(PSEN2):c.1073-10C>T rs201191318
NM_000447.3(PSEN2):c.1092C>T (p.Leu364=)
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.1164G>C (p.Thr388=) rs369274454
NM_000447.3(PSEN2):c.1191+8G>C
NM_000447.3(PSEN2):c.1209C>G (p.Leu403=)
NM_000447.3(PSEN2):c.1236G>A (p.Ala412=)
NM_000447.3(PSEN2):c.1242C>T (p.Pro414=)
NM_000447.3(PSEN2):c.1257C>T (p.Ser419=) rs2102698755
NM_000447.3(PSEN2):c.1269G>T (p.Gly423=)
NM_000447.3(PSEN2):c.1303C>T (p.Arg435Trp)
NM_000447.3(PSEN2):c.141+11C>G rs1249275874
NM_000447.3(PSEN2):c.142-16A>C
NM_000447.3(PSEN2):c.142-17G>A
NM_000447.3(PSEN2):c.216G>A (p.Pro72=)
NM_000447.3(PSEN2):c.255G>A (p.Ala85=)
NM_000447.3(PSEN2):c.294C>T (p.Cys98=)
NM_000447.3(PSEN2):c.306G>A (p.Val102=)
NM_000447.3(PSEN2):c.348T>C (p.Asn116=)
NM_000447.3(PSEN2):c.356+11_356+13del
NM_000447.3(PSEN2):c.387C>T (p.Pro129=)
NM_000447.3(PSEN2):c.390G>A (p.Ser130=)
NM_000447.3(PSEN2):c.519C>T (p.Ile173=) rs2102682546
NM_000447.3(PSEN2):c.537G>A (p.Leu179=)
NM_000447.3(PSEN2):c.54G>A (p.Thr18=)
NM_000447.3(PSEN2):c.588T>C (p.Asn196=)
NM_000447.3(PSEN2):c.633C>T (p.Phe211=)
NM_000447.3(PSEN2):c.744A>G (p.Pro248=)
NM_000447.3(PSEN2):c.788-14C>T
NM_000447.3(PSEN2):c.843C>T (p.Ala281=) rs2102686884
NM_000447.3(PSEN2):c.886+15C>T
NM_000447.3(PSEN2):c.887-4C>G
NM_000447.3(PSEN2):c.971-18C>T
NM_000447.3(PSEN2):c.971-9G>C rs2102690274
NM_000484.4(APP):c.102T>C (p.Ile34=)
NM_000484.4(APP):c.1034-4A>G
NM_000484.4(APP):c.105C>A (p.Ala35=)
NM_000484.4(APP):c.1091-20_1091-18del
NM_000484.4(APP):c.1137C>G (p.Leu379=) rs199526286
NM_000484.4(APP):c.1164T>C (p.His388=) rs2042467013
NM_000484.4(APP):c.1191G>A (p.Arg397=)
NM_000484.4(APP):c.1293T>A (p.Val431=)
NM_000484.4(APP):c.1359G>C (p.Leu453=)
NM_000484.4(APP):c.1402C>T (p.Arg468Cys) rs1162419578
NM_000484.4(APP):c.1416C>T (p.Ala472=)
NM_000484.4(APP):c.1434C>T (p.Thr478=)
NM_000484.4(APP):c.1459-15A>T
NM_000484.4(APP):c.1491T>C (p.Tyr497=) rs755218930
NM_000484.4(APP):c.1569C>T (p.Ala523=)
NM_000484.4(APP):c.1587+14A>G
NM_000484.4(APP):c.1587+7G>A rs1463470081
NM_000484.4(APP):c.1653G>A (p.Val551=)
NM_000484.4(APP):c.1815G>A (p.Glu605=)
NM_000484.4(APP):c.1824C>T (p.Pro608=)
NM_000484.4(APP):c.1896C>T (p.Asn632=) rs2146319673
NM_000484.4(APP):c.1905C>T (p.Asn635=)
NM_000484.4(APP):c.1909+18C>A
NM_000484.4(APP):c.1909+9C>T rs201352332
NM_000484.4(APP):c.1910-18C>T
NM_000484.4(APP):c.1910-7T>C rs2146296686
NM_000484.4(APP):c.1926C>T (p.Ala642=)
NM_000484.4(APP):c.1963+11C>T rs763648992
NM_000484.4(APP):c.1963+18C>T
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)
NM_000484.4(APP):c.1980T>C (p.Asn660=)
NM_000484.4(APP):c.2010G>A (p.Lys670=)
NM_000484.4(APP):c.2019A>C (p.Ala673=)
NM_000484.4(APP):c.2046A>G (p.Glu682=)
NM_000484.4(APP):c.2065-14_2065-12del
NM_000484.4(APP):c.2065-17_2065-15del
NM_000484.4(APP):c.2065-4C>T
NM_000484.4(APP):c.2079A>G (p.Glu693=) rs768446605
NM_000484.4(APP):c.2115C>T (p.Leu705=)
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2211+11T>C
NM_000484.4(APP):c.2212-12_2212-10del rs753046287
NM_000484.4(APP):c.2212-15C>T
NM_000484.4(APP):c.2212-9_2212-6del rs765657163
NM_000484.4(APP):c.2241C>T (p.Arg747=) rs2036996538
NM_000484.4(APP):c.226-6T>C
NM_000484.4(APP):c.226-8T>C
NM_000484.4(APP):c.2265C>T (p.Asn755=)
NM_000484.4(APP):c.2271C>T (p.Tyr757=)
NM_000484.4(APP):c.240G>T (p.Leu80=)
NM_000484.4(APP):c.24C>T (p.Leu8=)
NM_000484.4(APP):c.305G>A (p.Arg102His)
NM_000484.4(APP):c.309G>A (p.Lys103=)
NM_000484.4(APP):c.312G>A (p.Gln104=)
NM_000484.4(APP):c.355+11C>T
NM_000484.4(APP):c.355+12G>A
NM_000484.4(APP):c.355+16G>C
NM_000484.4(APP):c.355+8G>A
NM_000484.4(APP):c.432C>T (p.Cys144=)
NM_000484.4(APP):c.456C>T (p.Thr152=)
NM_000484.4(APP):c.459C>T (p.Val153=)
NM_000484.4(APP):c.462C>G (p.Ala154=) rs200398369
NM_000484.4(APP):c.462C>T (p.Ala154=)
NM_000484.4(APP):c.468+16T>C
NM_000484.4(APP):c.469-5T>C
NM_000484.4(APP):c.510G>A (p.Met170Ile)
NM_000484.4(APP):c.565C>T (p.Leu189=)
NM_000484.4(APP):c.57+14C>T
NM_000484.4(APP):c.57+15T>C
NM_000484.4(APP):c.621T>C (p.Asp207=)
NM_000484.4(APP):c.63C>A (p.Pro21=)
NM_000484.4(APP):c.663-10G>A
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.825C>T (p.Thr275=)
NM_000484.4(APP):c.828C>A (p.Thr276=)
NM_000484.4(APP):c.843G>A (p.Glu281=)
NM_000484.4(APP):c.866-16C>A
NM_000484.4(APP):c.879A>G (p.Glu293=)
NM_000484.4(APP):c.891G>A (p.Thr297=) rs773857944
NM_000484.4(APP):c.963C>T (p.Tyr321=)

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