ClinVar Miner

Variants in gene AKAP9 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
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.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys) rs148146011 0.00026
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.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) rs147302252 0.00011
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val) rs587780849 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397

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