ClinVar Miner

List of variants in gene APP studied for Alzheimer disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
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_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

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