ClinVar Miner

List of variants in gene AKAP9 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
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.4826G>A (p.Arg1609Lys) rs148146011 0.00026
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_005751.5(AKAP9):c.1203C>T (p.Val401=) rs748951815 0.00003
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) rs961090757 0.00003
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) rs730880044 0.00001
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) rs769686940 0.00001
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr) rs146811417 0.00001
NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn) rs371957004 0.00001
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) rs757123477 0.00001
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp) rs1818400785
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter) rs978219635
NM_005751.5(AKAP9):c.881T>G (p.Phe294Cys) rs1798317723

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