ClinVar Miner

List of variants in gene KCNJ5 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 266
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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.122G>A (p.Arg41His) rs139073333 0.00025
NM_000890.5(KCNJ5):c.*960G>C rs186315097 0.00022
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp) rs142454198 0.00017
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_000890.5(KCNJ5):c.-272A>G rs886048007 0.00012
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) rs372447456 0.00011
NM_000890.5(KCNJ5):c.-35G>C rs572785542 0.00010
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) rs148307402 0.00009
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser) rs147070381 0.00008
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile) rs375669366 0.00006
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln) rs530587789 0.00005
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) rs200170681 0.00005
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter) rs746985291 0.00005
NM_000890.5(KCNJ5):c.-285G>C rs886048006 0.00004
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe) rs760375676 0.00004
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp) rs778735978 0.00003
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) rs529755922 0.00002
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly) rs780934792 0.00002
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg) rs745968243 0.00002
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys) rs781011854 0.00002
NM_000890.5(KCNJ5):c.155G>A (p.Arg52His) rs144062083 0.00002
NM_000890.5(KCNJ5):c.260G>A (p.Arg87His) rs747951700 0.00002
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile) rs749202931 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr) rs1232257803 0.00002
NM_000890.5(KCNJ5):c.475G>T (p.Glu159Ter) rs763940447 0.00002
NM_000890.5(KCNJ5):c.497T>C (p.Ile166Thr) rs908209122 0.00002
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys) rs777592481 0.00002
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) rs771919907 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.1133A>C (p.Gln378Pro) rs544093099 0.00001
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala) rs766058202 0.00001
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met) rs185412918 0.00001
NM_000890.5(KCNJ5):c.1217C>T (p.Pro406Leu) rs1467798537 0.00001
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys) rs72544301 0.00001
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp) rs757877367 0.00001
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys) rs781022847 0.00001
NM_000890.5(KCNJ5):c.295G>A (p.Val99Ile) rs1390685442 0.00001
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln) rs369247802 0.00001
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn) rs752310426 0.00001
NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr) rs201816501 0.00001
NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly) rs753651100 0.00001
NM_000890.5(KCNJ5):c.518T>G (p.Ile173Ser) rs1371805585 0.00001
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile) rs771161358 0.00001
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val) rs1389181295 0.00001
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr) rs750424299 0.00001
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp) rs772551729 0.00001
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp) rs746522890 0.00001
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) rs772877248 0.00001
NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp) rs148462487 0.00001
NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp) rs576156828 0.00001
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln) rs746240972 0.00001
NM_000890.5(KCNJ5):c.748A>T (p.Ile250Phe) rs769317544 0.00001
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010 0.00001
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp) rs1462481036 0.00001
NM_000890.5(KCNJ5):c.938-4C>T rs753186315 0.00001
NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln) rs1418258797 0.00001
NC_000011.9:g.(?_128781169)_(128786626_?)del
NC_000011.9:g.(?_128781169)_(128786626_?)dup
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.-9A>C rs752992023
NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His)
NM_000890.5(KCNJ5):c.1036G>A (p.Val346Met) rs2136003912
NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys)
NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala)
NM_000890.5(KCNJ5):c.1074C>A (p.Asn358Lys) rs2136003967
NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln)
NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile)
NM_000890.5(KCNJ5):c.1121G>T (p.Gly374Val) rs147680683
NM_000890.5(KCNJ5):c.112G>A (p.Asp38Asn) rs2135998525
NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg)
NM_000890.5(KCNJ5):c.1145G>T (p.Ser382Ile)
NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu)
NM_000890.5(KCNJ5):c.1151C>A (p.Pro384Gln) rs148307402
NM_000890.5(KCNJ5):c.1151C>T (p.Pro384Leu) rs148307402
NM_000890.5(KCNJ5):c.1151del (p.Pro384fs)
NM_000890.5(KCNJ5):c.1151dup (p.Leu385fs)
NM_000890.5(KCNJ5):c.1153dup (p.Leu385fs) rs2136004085
NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser)
NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs) rs1944587149
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
NM_000890.5(KCNJ5):c.1180C>A (p.Leu394Met)
NM_000890.5(KCNJ5):c.1185T>G (p.Asp395Glu)
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del)
NM_000890.5(KCNJ5):c.1210G>C (p.Asp404His) rs1265998559
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) rs930047035
NM_000890.5(KCNJ5):c.1253C>G (p.Ser418Trp)
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
NM_000890.5(KCNJ5):c.133G>C (p.Glu45Gln) rs372447456
NM_000890.5(KCNJ5):c.141G>C (p.Lys47Asn) rs1298630101
NM_000890.5(KCNJ5):c.149G>C (p.Arg50Pro) rs748152068
NM_000890.5(KCNJ5):c.160A>C (p.Met54Leu) rs1368008601
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser)
NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser)
NM_000890.5(KCNJ5):c.182A>G (p.Asn61Ser)
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met) rs1389808024
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)
NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser)
NM_000890.5(KCNJ5):c.219C>A (p.Tyr73Ter) rs2135998712
NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu)
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
NM_000890.5(KCNJ5):c.303G>T (p.Trp101Cys)
NM_000890.5(KCNJ5):c.313G>A (p.Gly105Ser)
NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala) rs776932193
NM_000890.5(KCNJ5):c.316T>C (p.Phe106Leu) rs1944499851
NM_000890.5(KCNJ5):c.328C>T (p.Leu110Phe)
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val)
NM_000890.5(KCNJ5):c.342C>G (p.Ile114Met)
NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp)
NM_000890.5(KCNJ5):c.352C>A (p.Leu118Met)
NM_000890.5(KCNJ5):c.361G>A (p.Val121Ile)
NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp)
NM_000890.5(KCNJ5):c.397C>T (p.Leu133Phe) rs1555144961
NM_000890.5(KCNJ5):c.409G>A (p.Val137Met)
NM_000890.5(KCNJ5):c.416C>A (p.Ala139Asp) rs2135998979
NM_000890.5(KCNJ5):c.41A>T (p.Glu14Val) rs1555144849
NM_000890.5(KCNJ5):c.41_46del (p.Glu14_Ile15del) rs2135998405
NM_000890.5(KCNJ5):c.435G>A (p.Glu145=) rs1944503011
NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn)
NM_000890.5(KCNJ5):c.439G>C (p.Glu147Gln) rs148355179
NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala)
NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser)
NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys) rs1944503932
NM_000890.5(KCNJ5):c.466G>A (p.Val156Ile)
NM_000890.5(KCNJ5):c.483T>G (p.Cys161Trp)
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys)
NM_000890.5(KCNJ5):c.506T>C (p.Leu169Ser) rs2135999150
NM_000890.5(KCNJ5):c.50T>A (p.Val17Asp)
NM_000890.5(KCNJ5):c.519C>G (p.Ile173Met)
NM_000890.5(KCNJ5):c.520C>A (p.Leu174Met) rs1944506012
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile) rs774980501
NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr)
NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser)
NM_000890.5(KCNJ5):c.558G>A (p.Met186Ile)
NM_000890.5(KCNJ5):c.55C>T (p.Pro19Ser)
NM_000890.5(KCNJ5):c.56C>T (p.Pro19Leu)
NM_000890.5(KCNJ5):c.592G>A (p.Glu198Lys)
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer) rs1177055098
NM_000890.5(KCNJ5):c.615C>G (p.Asn205Lys)
NM_000890.5(KCNJ5):c.61G>C (p.Asp21His)
NM_000890.5(KCNJ5):c.622A>G (p.Ile208Val) rs1555145038
NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu)
NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu)
NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn) rs786205823
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
NM_000890.5(KCNJ5):c.638A>G (p.Glu213Gly)
NM_000890.5(KCNJ5):c.646T>C (p.Cys216Arg)
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)
NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu) rs775915273
NM_000890.5(KCNJ5):c.663G>A (p.Val221=) rs1944509320
NM_000890.5(KCNJ5):c.666C>T (p.Gly222=) rs200933370
NM_000890.5(KCNJ5):c.667G>A (p.Asp223Asn) rs761349623
NM_000890.5(KCNJ5):c.670C>G (p.Leu224Val)
NM_000890.5(KCNJ5):c.670C>T (p.Leu224Phe) rs2135999392
NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys)
NM_000890.5(KCNJ5):c.67A>G (p.Lys23Glu)
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met) rs149327599
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg)
NM_000890.5(KCNJ5):c.691G>A (p.Glu231Lys)
NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr)
NM_000890.5(KCNJ5):c.704G>A (p.Arg235Gln) rs1475852457
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter)
NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs)
NM_000890.5(KCNJ5):c.73A>T (p.Ile25Phe) rs2135998470
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met)
NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser)
NM_000890.5(KCNJ5):c.766G>A (p.Asp256Asn) rs2135999533
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met)
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)
NM_000890.5(KCNJ5):c.799C>T (p.Arg267Cys)
NM_000890.5(KCNJ5):c.810_811delinsGA (p.Val271Met) rs1591450867
NM_000890.5(KCNJ5):c.811G>A (p.Val271Met)
NM_000890.5(KCNJ5):c.829T>G (p.Ser277Ala)
NM_000890.5(KCNJ5):c.830C>T (p.Ser277Phe)
NM_000890.5(KCNJ5):c.834T>A (p.His278Gln) rs7118833
NM_000890.5(KCNJ5):c.834_835inv (p.Glu279Lys)
NM_000890.5(KCNJ5):c.837G>C (p.Glu279Asp)
NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys)
NM_000890.5(KCNJ5):c.854C>G (p.Pro285Arg) rs2135999648
NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser)
NM_000890.5(KCNJ5):c.866T>C (p.Met289Thr) rs936797038
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)
NM_000890.5(KCNJ5):c.86C>A (p.Ala29Asp) rs863224689
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala)
NM_000890.5(KCNJ5):c.925G>A (p.Val309Met)
NM_000890.5(KCNJ5):c.937+4del
NM_000890.5(KCNJ5):c.937G>A (p.Gly313Ser)
NM_000890.5(KCNJ5):c.944C>A (p.Thr315Asn) rs2136003795
NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter)
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_000890.5(KCNJ5):c.978_979insC (p.Val327fs)
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)

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