ClinVar Miner

List of variants in gene AKAP9 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
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.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.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) rs140782750 0.00074
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 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.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_005751.5(AKAP9):c.9214-6T>C rs377532409 0.00033
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=) rs760173622 0.00021
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) rs147841245 0.00009
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) rs376528503 0.00008
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) rs774110970 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) rs757261572 0.00004
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp) rs774013935 0.00001
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr) rs746612786 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=) rs1315064294 0.00001
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His) rs752977579 0.00001
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg) rs752618658 0.00001
NM_005751.5(AKAP9):c.1288T>A (p.Leu430Ile) rs756987149
NM_005751.5(AKAP9):c.1289T>A (p.Leu430Ter) rs778556625
NM_005751.5(AKAP9):c.3113T>C (p.Val1038Ala) rs1584047508
NM_005751.5(AKAP9):c.5153C>A (p.Ser1718Tyr) rs1584285416
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp) rs1563113459

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