ClinVar Miner

List of variants studied for Alzheimer disease by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
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_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_000484.3(APP):c.-626C>T rs139885956 0.00230
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_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
NC_000021.9:g.26171301C>T rs187510057 0.00096
NM_000484.4(APP):c.663-7T>C rs183084252 0.00089
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
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_000484.4(APP):c.226G>A (p.Val76Ile) rs151188448 0.00039
NM_000484.4(APP):c.1225-11T>A rs201326163 0.00034
NM_000484.4(APP):c.225+19C>G rs55661697 0.00032
NM_000484.4(APP):c.2017G>A (p.Ala673Thr) rs63750847 0.00031
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
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_000484.4(APP):c.1794C>T (p.Thr598=) rs201817181 0.00018
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 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_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579 0.00011
NM_000484.4(APP):c.1248A>G (p.Ala416=) rs556540232 0.00009
NM_000484.4(APP):c.225+7C>A rs201865168 0.00009
NM_000484.4(APP):c.57+16C>T rs201003643 0.00009
NM_000484.4(APP):c.786C>T (p.Tyr262=) rs140941257 0.00009
NM_000484.4(APP):c.1091-18T>G rs201718786 0.00008
NM_000484.4(APP):c.1650C>T (p.Asn550=) rs201877705 0.00007
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.2137G>A (p.Ala713Thr) rs63750066 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_000484.4(APP):c.975C>T (p.Gly325=) rs201622977 0.00006
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_000484.4(APP):c.1024G>A (p.Gly342Ser) rs200727285 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.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.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000484.4(APP):c.298C>T (p.Arg100Trp) rs200347552 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_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.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000484.4(APP):c.225+13C>T rs200888218 0.00003
NM_000484.4(APP):c.46C>T (p.Arg16Trp) rs202070273 0.00003
NM_000484.4(APP):c.890C>T (p.Thr297Met) rs557227002 0.00003
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.1688-4T>G rs374277868 0.00002
NM_000484.4(APP):c.1775C>T (p.Ala592Val) rs754790092 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_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
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.1122C>T (p.Ala374=) rs780257087 0.00001
NM_000484.4(APP):c.1123G>A (p.Val375Ile) rs141331202 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.130C>T (p.His44Tyr) rs774281569 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.1454C>T (p.Pro485Leu) rs369990738 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.1651G>A (p.Val551Met) rs761339914 0.00001
NM_000484.4(APP):c.1799C>T (p.Thr600Met) rs200088099 0.00001
NM_000484.4(APP):c.1814A>G (p.Glu605Gly) rs748980864 0.00001
NM_000484.4(APP):c.1827G>C (p.Val609=) rs201858248 0.00001
NM_000484.4(APP):c.1995G>C (p.Glu665Asp) rs63750363 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.2281A>G (p.Thr761Ala) rs766455623 0.00001
NM_000484.4(APP):c.283C>G (p.Gln95Glu) rs950592627 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.355+16G>A rs201791126 0.00001
NM_000484.4(APP):c.44C>T (p.Ala15Val) rs913925398 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.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_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.(?_27113910)_(27542938_?)dup
NC_000021.8:g.(?_27251861)_(27544138_?)dup
NC_000021.8:g.(?_27253981)_(27277409_?)del
NC_000021.8:g.(?_27462239)_(27542938_?)dup
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.102T>C (p.Ile34=)
NM_000484.4(APP):c.1034-4A>G
NM_000484.4(APP):c.1035G>T (p.Met345Ile)
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) rs1260561215
NM_000484.4(APP):c.105C>A (p.Ala35=)
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.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.1190G>A (p.Arg397Lys) rs913378009
NM_000484.4(APP):c.1191G>A (p.Arg397=)
NM_000484.4(APP):c.1199C>T (p.Ala400Val) rs1334791875
NM_000484.4(APP):c.1224+16C>A rs199585064
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.1293T>A (p.Val431=)
NM_000484.4(APP):c.1300-3C>A rs1342453998
NM_000484.4(APP):c.1345G>A (p.Glu449Lys)
NM_000484.4(APP):c.1359G>C (p.Leu453=)
NM_000484.4(APP):c.1366A>G (p.Thr456Ala)
NM_000484.4(APP):c.1369C>T (p.His457Tyr)
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.1457G>A (p.Arg486Gln) rs200268317
NM_000484.4(APP):c.1458+18C>T rs200083249
NM_000484.4(APP):c.1459-15A>T
NM_000484.4(APP):c.1462C>T (p.Arg488Cys) rs2146493615
NM_000484.4(APP):c.1475A>G (p.Asn492Ser)
NM_000484.4(APP):c.1491T>C (p.Tyr497=) rs755218930
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
NM_000484.4(APP):c.1569C>T (p.Ala523=)
NM_000484.4(APP):c.1570G>A (p.Ala524Thr)
NM_000484.4(APP):c.1587+14A>G
NM_000484.4(APP):c.1587+6C>T
NM_000484.4(APP):c.1587+7G>A rs1463470081
NM_000484.4(APP):c.15G>C (p.Leu5Phe)
NM_000484.4(APP):c.1612T>C (p.Tyr538His)
NM_000484.4(APP):c.1646A>G (p.Tyr549Cys)
NM_000484.4(APP):c.1649A>G (p.Asn550Ser)
NM_000484.4(APP):c.1653G>A (p.Val551=)
NM_000484.4(APP):c.1658C>T (p.Ala553Val) rs2146488766
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.1770C>T (p.Asn590=)
NM_000484.4(APP):c.1815G>A (p.Glu605=)
NM_000484.4(APP):c.1824C>T (p.Pro608=)
NM_000484.4(APP):c.1848C>T (p.Asp616=)
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+5G>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.1916C>A (p.Pro639His) rs771964280
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.1978A>T (p.Asn660Tyr) rs770773038
NM_000484.4(APP):c.1979A>G (p.Asn660Ser)
NM_000484.4(APP):c.1980T>C (p.Asn660=)
NM_000484.4(APP):c.1988C>T (p.Thr663Met)
NM_000484.4(APP):c.1996A>T (p.Ile666Phe)
NM_000484.4(APP):c.2010G>A (p.Lys670=)
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2019A>C (p.Ala673=)
NM_000484.4(APP):c.2046A>G (p.Glu682=)
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.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.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2079A>G (p.Glu693=) rs768446605
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2086G>A (p.Gly696Ser)
NM_000484.4(APP):c.2106C>G (p.Ile702Met)
NM_000484.4(APP):c.2115C>T (p.Leu705=)
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val) rs2146237965
NM_000484.4(APP):c.2147T>C (p.Ile716Thr) rs63750851
NM_000484.4(APP):c.2148C>A (p.Ile716=) rs145564988
NM_000484.4(APP):c.2148C>T (p.Ile716=) rs145564988
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
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.2240G>A (p.Arg747His)
NM_000484.4(APP):c.2241C>T (p.Arg747=) rs2036996538
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.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.2267G>A (p.Gly756Asp) rs2146193044
NM_000484.4(APP):c.2271C>T (p.Tyr757=)
NM_000484.4(APP):c.2285A>T (p.Tyr762Phe) rs373482247
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.347G>A (p.Arg116His) rs2061787725
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+6C>T rs1555873548
NM_000484.4(APP):c.355+8G>A
NM_000484.4(APP):c.419G>C (p.Arg140Thr)
NM_000484.4(APP):c.432C>T (p.Cys144=)
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
NM_000484.4(APP):c.446A>G (p.His149Arg)
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.496C>T (p.His166Tyr)
NM_000484.4(APP):c.510G>A (p.Met170Ile)
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.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.58-3C>T
NM_000484.4(APP):c.581A>G (p.Asp194Gly)
NM_000484.4(APP):c.583A>G (p.Asn195Asp) rs2146905389
NM_000484.4(APP):c.584A>G (p.Asn195Ser)
NM_000484.4(APP):c.621T>C (p.Asp207=)
NM_000484.4(APP):c.634G>A (p.Gly212Arg)
NM_000484.4(APP):c.63C>A (p.Pro21=)
NM_000484.4(APP):c.663-10G>A
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.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.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.865+11A>G
NM_000484.4(APP):c.865+3A>G rs2146779425
NM_000484.4(APP):c.866-16C>A
NM_000484.4(APP):c.866-3T>C rs2043232394
NM_000484.4(APP):c.879A>G (p.Glu293=)
NM_000484.4(APP):c.891G>A (p.Thr297=) rs773857944
NM_000484.4(APP):c.901C>G (p.Arg301Gly)
NM_000484.4(APP):c.963C>T (p.Tyr321=)
NM_000484.4(APP):c.976G>A (p.Gly326Ser)

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