ClinVar Miner

List of variants in gene AKAP9 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
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.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_005751.5(AKAP9):c.11300C>T (p.Ser3767Leu) rs149979685 0.00148
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.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 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.10672A>G (p.Ile3558Val) rs144054367 0.00060
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr) rs144372406 0.00058
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=) rs143473598 0.00033
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.10518C>T (p.Thr3506=) rs377663331 0.00021
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) rs147302252 0.00011
NM_005751.5(AKAP9):c.126G>A (p.Thr42=) rs186969744 0.00010
NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu) rs199527737 0.00008
NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp) rs373876340 0.00006
NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) rs534185372 0.00006
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=) rs376961682 0.00002
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His) rs751653287 0.00001
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln) rs143967328 0.00001
NM_005751.5(AKAP9):c.4672A>G (p.Thr1558Ala) rs746815931 0.00001
NM_005751.5(AKAP9):c.6188A>G (p.Glu2063Gly) rs778681643 0.00001
NM_005751.5(AKAP9):c.-214CGG[6] rs371245265
NM_005751.5(AKAP9):c.11366_11367del (p.Thr3789fs) rs1818404612
NM_005751.5(AKAP9):c.1306G>C (p.Glu436Gln)
NM_005751.5(AKAP9):c.185G>A (p.Cys62Tyr) rs1433559893
NM_005751.5(AKAP9):c.205A>G (p.Ser69Gly)
NM_005751.5(AKAP9):c.3643A>C (p.Thr1215Pro) rs1801485947
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) rs1330827109
NM_005751.5(AKAP9):c.4682T>G (p.Val1561Gly)
NM_005751.5(AKAP9):c.5622A>C (p.Thr1874=)
NM_005751.5(AKAP9):c.6330+7A>G
NM_005751.5(AKAP9):c.6366A>C (p.Thr2122=)
NM_005751.5(AKAP9):c.6613-10_6614del rs1584446954

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