ClinVar Miner

List of variants in gene APP reported as likely benign for Alzheimer disease

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.*590C>A rs45455403 0.00936
NM_000484.3(APP):c.-156G>C rs45476095 0.00751
NM_000484.3(APP):c.*1125T>G rs45599935 0.00640
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_000484.4(APP):c.*372A>G rs187940037 0.00231
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_000484.4(APP):c.*624A>G rs199680232 0.00100
NM_000484.4(APP):c.-44C>T rs200289921 0.00093
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
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.225+19C>G rs55661697 0.00032
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.*738T>C rs201621005 0.00012
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.1248A>G (p.Ala416=) rs556540232 0.00009
NM_000484.4(APP):c.57+16C>T rs201003643 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.704C>T (p.Ala235Val) rs139819006 0.00006
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.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_000484.4(APP):c.*663C>T rs572356515 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_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_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.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_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.1458+18C>T rs200083249
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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