ClinVar Miner

List of variants in gene KCNJ5 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584 0.98759
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833 0.84299
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_000890.5(KCNJ5):c.938-10G>A rs4937391 0.74403
NM_000890.5(KCNJ5):c.937+7C>T rs45516097 0.06448
NM_000890.5(KCNJ5):c.-10-8558T>C rs78838391 0.02460
NM_000890.5(KCNJ5):c.938-11C>T rs72542772 0.00376
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_000890.5(KCNJ5):c.192C>T (p.His64=) rs140848236 0.00182
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=) rs149861510 0.00087
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=) rs113012271 0.00034
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=) rs141325005 0.00026
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His) rs139073333 0.00025
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=) rs147245544 0.00021
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp) rs142454198 0.00017
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile) rs138295501 0.00016
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) rs372447456 0.00011
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) rs148307402 0.00009
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=) rs750600982 0.00009
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser) rs147070381 0.00008
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 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.1254G>A (p.Ser418=) rs528463709 0.00005
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) rs200170681 0.00005
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=) rs370673577 0.00005
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter) rs746985291 0.00005
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=) rs375205252 0.00004
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe) rs760375676 0.00004
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=) rs772009654 0.00003
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=) rs765873474 0.00003
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=) rs1249014742 0.00003
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=) rs140697732 0.00003
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771 0.00003
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=) rs370546974 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=) rs757895735 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.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.447C>T (p.Thr149=) rs140491115 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.492G>T (p.Gly164=) rs540291475 0.00002
NM_000890.5(KCNJ5):c.497T>C (p.Ile166Thr) rs908209122 0.00002
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=) rs149327599 0.00002
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) rs544093099 0.00001
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=) rs781130958 0.00001
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=) rs1202155314 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.120G>A (p.Thr40=) rs370114584 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.183C>T (p.Asn61=) rs760931417 0.00001
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=) rs371347693 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.408C>T (p.Phe136=) rs780052854 0.00001
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=) rs149219318 0.00001
NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr) rs201816501 0.00001
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg) rs145901904 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.618A>G (p.Ala206=) rs758377412 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.732C>T (p.Thr244=) rs545729688 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.906G>T (p.Val302=) rs533482437 0.00001
NM_000890.5(KCNJ5):c.937+9C>T rs781582486 0.00001
NM_000890.5(KCNJ5):c.938-4C>T rs753186315 0.00001
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=) rs1370256653 0.00001
NC_000011.9:g.(?_128781169)_(128786626_?)del
NC_000011.9:g.(?_128781169)_(128786626_?)dup
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)
NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His)
NM_000890.5(KCNJ5):c.1036G>A (p.Val346Met) rs2136003912
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=) rs1159900612
NM_000890.5(KCNJ5):c.1074C>A (p.Asn358Lys) rs2136003967
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
NM_000890.5(KCNJ5):c.112G>A (p.Asp38Asn) rs2135998525
NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg)
NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu)
NM_000890.5(KCNJ5):c.1151C>A (p.Pro384Gln) 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.1161G>C (p.Gly387=) rs2136004112
NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser)
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.1194T>C (p.Ala398=)
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)
NM_000890.5(KCNJ5):c.1210G>C (p.Asp404His) rs1265998559
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=) rs919890581
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=) rs757867512
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.144G>A (p.Lys48=)
NM_000890.5(KCNJ5):c.149G>C (p.Arg50Pro) rs748152068
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser)
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met) rs1389808024
NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser)
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=) rs1735429450
NM_000890.5(KCNJ5):c.246G>A (p.Val82=)
NM_000890.5(KCNJ5):c.276C>G (p.Val92=) rs1944499040
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
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.330C>T (p.Leu110=) rs762272154
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.397C>T (p.Leu133Phe) rs1555144961
NM_000890.5(KCNJ5):c.409G>A (p.Val137Met)
NM_000890.5(KCNJ5):c.411G>A (p.Val137=)
NM_000890.5(KCNJ5):c.41A>T (p.Glu14Val) rs1555144849
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.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) rs587777437
NM_000890.5(KCNJ5):c.466G>A (p.Val156Ile)
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>C (p.Cys185Ser)
NM_000890.5(KCNJ5):c.592G>A (p.Glu198Lys)
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=) rs2135999272
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer) rs1177055098
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.634G>A (p.Asp212Asn) rs786205823
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)
NM_000890.5(KCNJ5):c.663G>A (p.Val221=) rs1944509320
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
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>T (p.Leu224Phe) rs2135999392
NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys)
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met) rs149327599
NM_000890.5(KCNJ5):c.691G>A (p.Glu231Lys)
NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr)
NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs)
NM_000890.5(KCNJ5):c.73A>T (p.Ile25Phe) rs2135998470
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser)
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.810_811delinsGA (p.Val271Met) rs1591450867
NM_000890.5(KCNJ5):c.813G>T (p.Val271=)
NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)
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.843_844delinsTG (p.Gln282Glu) rs1060503834
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)
NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser)
NM_000890.5(KCNJ5):c.866T>C (p.Met289Thr) rs936797038
NM_000890.5(KCNJ5):c.86C>A (p.Ala29Asp) rs863224689
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=) rs2135999678
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
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.938-11_938-10delinsTA rs2136003778
NM_000890.5(KCNJ5):c.938-13T>G rs2136003773
NM_000890.5(KCNJ5):c.938-20T>C
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=) rs767651199
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)

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