ClinVar Miner

List of variants in gene AKAP9 reported as likely benign for Romano-Ward syndrome

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Total variants: 27
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HGVS dbSNP
NM_005751.4(AKAP9):c.-124G>C rs4727267
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) rs1063243
NM_005751.4(AKAP9):c.10608-15G>C rs112467497
NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) rs34327395
NM_005751.4(AKAP9):c.10845G>A (p.Lys3615=) rs138739292
NM_005751.4(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919
NM_005751.4(AKAP9):c.11331-11A>T rs115270109
NM_005751.4(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334
NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) rs35669569
NM_005751.4(AKAP9):c.2782T>C (p.Leu928=) rs34370932
NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) rs1989779
NM_005751.4(AKAP9):c.3318+13C>A rs73403768
NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) rs13245393
NM_005751.4(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353
NM_005751.4(AKAP9):c.4004_4006dup (p.Leu1336_Glu1337insGln) rs10644111
NM_005751.4(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505
NM_005751.4(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768
NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) rs10236397
NM_005751.4(AKAP9):c.6945+8C>T rs733957
NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833
NM_005751.4(AKAP9):c.747A>G (p.Glu249=) rs78515732
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) rs10228334
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=) rs28927678
NM_005751.4(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282

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