ClinVar Miner

List of variants in gene KCNJ11 reported as likely pathogenic

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val) rs193929358
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.131T>C (p.Val44Ala)
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.165C>A (p.Phe55Leu)
NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) rs1057518775
NM_000525.4(KCNJ11):c.190G>A (p.Val64Met) rs115716690
NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)
NM_000525.4(KCNJ11):c.271T>C (p.Trp91Arg)
NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)
NM_000525.4(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro) rs1591695840
NM_000525.4(KCNJ11):c.399del (p.Phe133fs)
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.4(KCNJ11):c.498C>G (p.Cys166Trp) rs587783669
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.515C>T (p.Ala172Val) rs1426834688
NM_000525.4(KCNJ11):c.532del (p.Ala178fs) rs1554901775
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000525.4(KCNJ11):c.556C>T (p.His186Tyr)
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) rs193922565
NM_000525.4(KCNJ11):c.612C>A (p.Asp204Glu)
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) rs1554901747
NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)
NM_000525.4(KCNJ11):c.639del (p.Thr214fs)
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe) rs1564865302
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) rs2133379609
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)
NM_000525.4(KCNJ11):c.844G>C (p.Glu282Gln)
NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys) rs377091338
NM_000525.4(KCNJ11):c.944T>C (p.Phe315Ser) rs2133379125
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.991_992del (p.Ser331fs)
NM_000525.4(KCNJ11):c.993dup (p.Lys332fs)

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