ClinVar Miner

List of variants in gene APP reported by Illumina Laboratory Services, Illumina

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000484.4(APP):c.-111G>C rs459543 0.08614
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.*590C>A rs45455403 0.00936
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00808
NM_000484.3(APP):c.-156G>C rs45476095 0.00751
NM_000484.4(APP):c.*967G>A rs45541739 0.00669
NC_000021.9:g.25880545A>C rs45599935 0.00601
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_000484.4(APP):c.*914G>A rs736479 0.00343
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00339
NM_000484.4(APP):c.*372A>G rs187940037 0.00231
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00135
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00109
NM_000484.3(APP):c.-200G>A rs200621906 0.00095
NM_000484.4(APP):c.*624A>G rs199680232 0.00093
NM_000484.4(APP):c.-44C>T rs200289921 0.00093
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_000484.3(APP):c.-199G>A rs761755102 0.00046
NM_000484.4(APP):c.*489A>G rs199862130 0.00046
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.*724C>T rs146774213 0.00033
NM_000484.4(APP):c.*194A>C rs199977643 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00017
NM_000484.4(APP):c.*738T>C rs201621005 0.00016
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.225+14G>A rs199644062 0.00012
NM_000484.4(APP):c.*454A>G rs200492624 0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579 0.00011
NM_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00009
NM_000484.4(APP):c.-132G>T rs886056998 0.00007
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
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.*355A>G rs939934369 0.00004
NM_000484.4(APP):c.1751C>G (p.Pro584Arg) rs145371658 0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn) rs750279232 0.00004
NM_000484.4(APP):c.*663C>T rs572356515 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000484.4(APP):c.574G>A (p.Glu192Lys) rs759517529 0.00002
NM_000484.4(APP):c.*1015T>G rs202108412 0.00001
NM_000484.4(APP):c.*289C>T rs199534609 0.00001
NM_000484.4(APP):c.*356T>G rs1445554583 0.00001
NM_000484.4(APP):c.1008C>T (p.Tyr336=) rs772676633 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049 0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578 0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val) rs773379255 0.00001
NM_000484.4(APP):c.1957C>A (p.Arg653=) rs370979414 0.00001
NM_000484.4(APP):c.2064+10A>T rs202051599 0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996 0.00001
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00001
NM_000484.4(APP):c.881A>G (p.Gln294Arg) rs1371336849 0.00001
NM_000484.3(APP):c.-186G>T rs886056999
NM_000484.4(APP):c.*521T>C rs2036961192
NM_000484.4(APP):c.*735G>A rs202132811
NM_000484.4(APP):c.*7G>A rs201922766
NM_000484.4(APP):c.*810C>T rs2036941224
NM_000484.4(APP):c.*97C>A rs886056992
NM_000484.4(APP):c.-111G>T rs459543
NM_000484.4(APP):c.-170C>A rs538664273
NM_000484.4(APP):c.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1641G>T (p.Leu547=) rs199860711
NM_000484.4(APP):c.1642C>G (p.Leu548Val) rs886056994
NM_000484.4(APP):c.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.2012T>C (p.Met671Thr) rs2038161468
NM_000484.4(APP):c.2175G>C (p.Lys725Asn) rs1569014114
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.751G>A (p.Gly251Ser) rs2044360130
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.966C>G (p.Gly322=) rs200016837

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