ClinVar Miner

List of variants in gene KCNJ5 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 146
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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.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.1152A>G (p.Pro384=) rs987098040 0.00010
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.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.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.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.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.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.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.344G>A (p.Arg115Gln) rs369247802 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.590C>T (p.Ala197Val) rs1389181295 0.00001
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=) rs758377412 0.00001
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) rs772877248 0.00001
NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp) rs576156828 0.00001
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=) rs545729688 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.90C>T (p.Arg30=) rs201886526 0.00001
NM_000890.5(KCNJ5):c.938-4C>T rs753186315 0.00001
NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys)
NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala)
NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln)
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile)
NM_000890.5(KCNJ5):c.1140C>T (p.Leu380=)
NM_000890.5(KCNJ5):c.1152A>C (p.Pro384=)
NM_000890.5(KCNJ5):c.115C>T (p.Arg39Cys)
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del)
NM_000890.5(KCNJ5):c.1218C>T (p.Pro406=)
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
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.132C>T (p.Ala44=) rs757867512
NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser)
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met) rs1389808024
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)
NM_000890.5(KCNJ5):c.240C>G (p.Thr80=)
NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu)
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val)
NM_000890.5(KCNJ5):c.336T>C (p.Ala112=)
NM_000890.5(KCNJ5):c.342C>G (p.Ile114Met)
NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp)
NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn)
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.456T>C (p.Tyr152=)
NM_000890.5(KCNJ5):c.459C>T (p.Gly153=)
NM_000890.5(KCNJ5):c.483T>G (p.Cys161Trp)
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys)
NM_000890.5(KCNJ5):c.501C>G (p.Leu167=)
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile) rs774980501
NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr)
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.60_61del (p.Trp20_Asp21delinsTer) rs1177055098
NM_000890.5(KCNJ5):c.615C>G (p.Asn205Lys)
NM_000890.5(KCNJ5):c.621C>T (p.Val207=)
NM_000890.5(KCNJ5):c.631C>A (p.Arg211=)
NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu)
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
NM_000890.5(KCNJ5):c.638A>G (p.Glu213Gly)
NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu) rs775915273
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
NM_000890.5(KCNJ5):c.67A>G (p.Lys23Glu)
NM_000890.5(KCNJ5):c.681C>T (p.Ser227=)
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg)
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter)
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met)
NM_000890.5(KCNJ5):c.768C>T (p.Asp256=)
NM_000890.5(KCNJ5):c.771C>T (p.Ile257=)
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met)
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
NM_000890.5(KCNJ5):c.799C>T (p.Arg267Cys)
NM_000890.5(KCNJ5):c.811G>A (p.Val271Met)
NM_000890.5(KCNJ5):c.837G>C (p.Glu279Asp)
NM_000890.5(KCNJ5):c.840C>T (p.Ile280=)
NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys)
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)
NM_000890.5(KCNJ5):c.87C>T (p.Ala29=)
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
NM_000890.5(KCNJ5):c.900A>G (p.Glu300=)
NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala)
NM_000890.5(KCNJ5):c.937+4del
NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter)
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=) rs767651199
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)

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