ClinVar Miner

List of variants in gene KCNJ5 reported as uncertain significance by Ambry Genetics

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His) rs139073333 0.00025
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
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.554G>T (p.Cys185Phe) rs760375676 0.00004
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
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.449T>C (p.Ile150Thr) rs1232257803 0.00002
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) rs544093099 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.259C>T (p.Arg87Cys) rs781022847 0.00001
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln) rs369247802 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.674G>A (p.Arg225His) rs772877248 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.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.110C>T (p.Thr37Ile)
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.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.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.283A>T (p.Met95Leu)
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val)
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.483T>G (p.Cys161Trp)
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys)
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.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.67A>G (p.Lys23Glu)
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg)
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter)
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met)
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met)
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.844C>A (p.Gln282Lys)
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
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.995G>A (p.Arg332Gln)

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