ClinVar Miner

List of variants in gene KCNJ5 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.-293C>G rs376640553 0.32896
NM_000890.5(KCNJ5):c.-295C>G rs372328307 0.22991
NM_000890.5(KCNJ5):c.-297C>G rs71470654 0.19749
NM_000890.5(KCNJ5):c.-299C>G rs71470655 0.13635
NM_000890.5(KCNJ5):c.-303C>G rs866881260 0.06090
NM_000890.5(KCNJ5):c.-305C>G rs1460266228 0.01893
NM_000890.5(KCNJ5):c.-307C>G rs1468425197 0.00660
NM_000890.5(KCNJ5):c.-289G>C rs60658163 0.00389
NM_000890.5(KCNJ5):c.*191C>T rs575827982 0.00092
NM_000890.5(KCNJ5):c.-63G>C rs557063967 0.00044
NM_000890.5(KCNJ5):c.*960G>C rs186315097 0.00022
NM_000890.5(KCNJ5):c.-272A>G rs886048007 0.00012
NM_000890.5(KCNJ5):c.-35G>C rs572785542 0.00010
NM_000890.5(KCNJ5):c.-285G>C rs886048006 0.00004
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771 0.00003
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_000890.5(KCNJ5):c.*1024A>G rs886048018 0.00001
NM_000890.5(KCNJ5):c.*284G>A rs1423304633 0.00001
NM_000890.5(KCNJ5):c.*650C>T rs77985687 0.00001
NM_000890.5(KCNJ5):c.-145C>T rs1460747444 0.00001
NM_000890.5(KCNJ5):c.-253G>T rs886048009 0.00001
NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly) rs753651100 0.00001
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010 0.00001
NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln) rs1418258797 0.00001
NM_000890.5(KCNJ5):c.*103G>C rs886048012
NM_000890.5(KCNJ5):c.*1090C>T rs958122055
NM_000890.5(KCNJ5):c.*1151C>T rs886048019
NM_000890.5(KCNJ5):c.*1323del rs886048020
NM_000890.5(KCNJ5):c.*200C>A rs756204980
NM_000890.5(KCNJ5):c.*228G>T rs886048013
NM_000890.5(KCNJ5):c.*667C>T rs886048014
NM_000890.5(KCNJ5):c.*747A>G rs886048015
NM_000890.5(KCNJ5):c.*861GTTTT[8] rs36205004
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.*978T>G rs886048017
NM_000890.5(KCNJ5):c.-213G>A rs1944091343
NM_000890.5(KCNJ5):c.-258_-255del rs886048008
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA rs886048005
NM_000890.5(KCNJ5):c.-287G>C rs868130049
NM_000890.5(KCNJ5):c.-289GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289GA[19] rs71057905
NM_000890.5(KCNJ5):c.-289GA[20] rs71057905
NM_000890.5(KCNJ5):c.-291C>G rs10893931
NM_000890.5(KCNJ5):c.-291GA[3] rs886048000
NM_000890.5(KCNJ5):c.-291_-286del rs886048002
NM_000890.5(KCNJ5):c.-291_-288del rs886048001
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-293GA[3] rs886047996
NM_000890.5(KCNJ5):c.-293GA[4] rs886047996
NM_000890.5(KCNJ5):c.-293_-288del rs886047997
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-294_-293insGAGA rs886047996
NM_000890.5(KCNJ5):c.-295GA[3] rs886047994
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG rs886047992
NM_000890.5(KCNJ5):c.-301C>G rs868416561
NM_000890.5(KCNJ5):c.-301_-291delinsG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-303_-291delinsGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG rs886047987
NM_000890.5(KCNJ5):c.-333CA[24] rs113761140
NM_000890.5(KCNJ5):c.435G>A (p.Glu145=) rs1944503011
NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys) rs1944503932
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011

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