ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 46
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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.6037G>A (p.Glu2013Lys) rs61757671 0.00142
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.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
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.10741T>G (p.Cys3581Gly) rs149819328 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser) rs369206894 0.00009
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met) rs368444006 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) rs786205709 0.00008
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) rs546600149 0.00006
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) rs138468216 0.00006
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) rs786205712 0.00005
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=) rs369522150 0.00004
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) rs786205713 0.00004
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) rs772669837 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) rs189083857 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00004
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) rs767966419 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys) rs140470576
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr) rs374340343
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) rs1330827109
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly) rs372568340
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) rs201958512

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