ClinVar Miner

List of variants in gene AKAP9 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
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.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
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.6249C>T (p.Phe2083=) rs139770404 0.00113
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.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=) rs138049714 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=) rs570384292 0.00003
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) rs141094356 0.00003
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) rs777561134 0.00001

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