ClinVar Miner

Variants in gene AKAP9 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2325 139 0 63 52 0 1 108

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 46 12
likely benign 0 46 0 63
benign 0 12 63 0

All variants with conflicting interpretations #

Total variants: 108
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser) rs139963188 0.00279
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=) rs368967178 0.00263
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met) rs144662445 0.00253
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00241
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) rs34101758 0.00217
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val) rs115624293 0.00167
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 0.00158
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) rs150379637 0.00065
NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=) rs147194783 0.00065
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) rs143712699 0.00064
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_005751.5(AKAP9):c.948A>G (p.Val316=) rs767404316 0.00031
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys) rs148146011 0.00026
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) rs61757674 0.00026
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) rs367857951 0.00024
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=) rs756398963 0.00021
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly) rs149819328 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_005751.5(AKAP9):c.717G>A (p.Gln239=) rs370346906 0.00014
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser) rs369206894 0.00009
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met) rs368444006 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=) rs372748115 0.00008
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) rs786205709 0.00008
NM_005751.5(AKAP9):c.492G>A (p.Leu164=) rs148852801 0.00007
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) rs546600149 0.00006
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) rs138468216 0.00006
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) rs786205712 0.00005
NM_005751.5(AKAP9):c.5610T>C (p.His1870=) rs150332727 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=) rs369522150 0.00004
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) rs786205713 0.00004
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) rs772669837 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) rs189083857 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00004
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=) rs754974720 0.00003
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=) rs570384292 0.00003
NM_005751.5(AKAP9):c.6330+19T>C rs376744370 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=) rs761734539 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) rs755408339 0.00001
NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=) rs892241767 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_005751.5(AKAP9):c.54C>A (p.Ala18=) rs770850802 0.00001
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val) rs587780849 0.00001
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) rs767966419 0.00001
NM_005751.5(AKAP9):c.7023G>A (p.Val2341=) rs1278796067 0.00001
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=) rs746961943 0.00001
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) rs777561134 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_005751.5(AKAP9):c.-214CGG[6] rs371245265
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys) rs140470576
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=) rs775989174
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) rs1330827109
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly) rs372568340
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.813C>T (p.Leu271=) rs776451600
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) rs201958512
NM_005751.5(AKAP9):c.9358+10A>G rs180926926

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