ClinVar Miner

List of variants in gene KCNJ11 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met) rs139079635 0.00037
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=) rs374134161 0.00034
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=) rs748877741 0.00009
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met) rs770375846 0.00008
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys) rs201264306 0.00008
NM_000525.4(KCNJ11):c.918C>T (p.Ala306=) rs377040874 0.00008
NM_000525.4(KCNJ11):c.726C>T (p.Asn242=) rs72554078 0.00007
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=) rs933392379 0.00005
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=) rs200855007 0.00005
NM_000525.4(KCNJ11):c.1116C>T (p.Ser372=) rs753294641 0.00004
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=) rs193922564 0.00004
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=) rs114899765 0.00004
NM_000525.4(KCNJ11):c.912C>T (p.Tyr304=) rs372471215 0.00004
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.579C>T (p.His193=) rs762089425 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000525.4(KCNJ11):c.882G>A (p.Thr294=) rs115585638 0.00003
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=) rs139445409 0.00003
NM_000525.4(KCNJ11):c.279C>T (p.Ile93=) rs142577961 0.00002
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=) rs774849547 0.00002
NM_000525.4(KCNJ11):c.621G>A (p.Lys207=) rs772121211 0.00002
NM_000525.4(KCNJ11):c.708G>A (p.Val236=) rs754205539 0.00002
NM_000525.4(KCNJ11):c.729C>T (p.Gly243=) rs752411054 0.00002
NM_000525.4(KCNJ11):c.753G>C (p.Leu251=) rs370638485 0.00002
NM_000525.4(KCNJ11):c.762G>A (p.Pro254=) rs761931092 0.00002
NM_000525.4(KCNJ11):c.798A>G (p.Pro266=) rs376027906 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.867C>T (p.Gly289=) rs573946686 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
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.1035G>A (p.Thr345=) rs747426640 0.00001
NM_000525.4(KCNJ11):c.1077G>A (p.Leu359=) rs777788092 0.00001
NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr) rs755839409 0.00001
NM_000525.4(KCNJ11):c.1152C>T (p.Ile384=) rs184094021 0.00001
NM_000525.4(KCNJ11):c.1167G>A (p.Leu389=) rs1953566494 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 0.00001
NM_000525.4(KCNJ11):c.129C>T (p.Asn43=) rs1344671029 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.174C>T (p.Asp58=) rs1237212288 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.258C>T (p.Phe86=) rs754048558 0.00001
NM_000525.4(KCNJ11):c.291C>T (p.His97=) rs371886780 0.00001
NM_000525.4(KCNJ11):c.357T>G (p.Ser119=) rs1351801133 0.00001
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=) rs104894236 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.435C>T (p.Ala145=) rs1489207595 0.00001
NM_000525.4(KCNJ11):c.447C>T (p.Leu149=) rs764796514 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.480C>T (p.Asn160=) rs568688504 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=) rs1260020267 0.00001
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys) rs775204908 0.00001
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=) rs759487287 0.00001
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=) rs746308356 0.00001
NM_000525.4(KCNJ11):c.690G>A (p.Val230=) rs779320079 0.00001
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237 0.00001
NM_000525.4(KCNJ11):c.763C>T (p.Leu255=) rs1953577938 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.828C>T (p.His276=) rs764950479 0.00001
NM_000525.4(KCNJ11):c.849C>T (p.Ile283=) rs745931687 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.969C>T (p.Asp323=) rs1272384074 0.00001
NM_000525.4(KCNJ11):c.990C>T (p.Tyr330=) rs753784994 0.00001
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys) rs763728797 0.00001
NM_000525.4(KCNJ11):c.-134G>A
NM_000525.4(KCNJ11):c.-134G>T rs387906398
NM_000525.4(KCNJ11):c.1008C>T (p.Thr336=) rs538566992
NM_000525.4(KCNJ11):c.1008_1009delinsAA (p.Val337Ile) rs2133379012
NM_000525.4(KCNJ11):c.1017G>A (p.Val339=) rs770408379
NM_000525.4(KCNJ11):c.1020C>T (p.Pro340=)
NM_000525.4(KCNJ11):c.1024C>T (p.Pro342Ser)
NM_000525.4(KCNJ11):c.102C>G (p.Arg34=) rs1953592016
NM_000525.4(KCNJ11):c.1039C>T (p.Arg347Cys)
NM_000525.4(KCNJ11):c.1041C>T (p.Arg347=)
NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=) rs1591694628
NM_000525.4(KCNJ11):c.1083C>T (p.Leu361=) rs2133378861
NM_000525.4(KCNJ11):c.1086C>T (p.Ala362=) rs2133378851
NM_000525.4(KCNJ11):c.1088_1089inv (p.Ser363Leu)
NM_000525.4(KCNJ11):c.1089A>T (p.Ser363=)
NM_000525.4(KCNJ11):c.1092C>T (p.Ala364=) rs953771974
NM_000525.4(KCNJ11):c.1094G>T (p.Arg365Leu)
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
NM_000525.4(KCNJ11):c.1131G>A (p.Lys377=) rs2133378688
NM_000525.4(KCNJ11):c.1149C>T (p.Ser383=)
NM_000525.4(KCNJ11):c.1154C>T (p.Ser385Phe)
NM_000525.4(KCNJ11):c.1155T>A (p.Ser385=)
NM_000525.4(KCNJ11):c.1155T>C (p.Ser385=) rs1057070401
NM_000525.4(KCNJ11):c.1161T>C (p.Asp387=) rs2133378589
NM_000525.4(KCNJ11):c.1164C>G (p.Ser388=) rs2133378582
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.131T>C (p.Val44Ala)
NM_000525.4(KCNJ11):c.148C>G (p.Arg50Gly)
NM_000525.4(KCNJ11):c.148C>T (p.Arg50Trp)
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.4(KCNJ11):c.151G>T (p.Glu51Ter)
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.165C>A (p.Phe55Leu)
NM_000525.4(KCNJ11):c.168G>T (p.Leu56=) rs1336022547
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.186G>T (p.Thr62=) rs748877741
NM_000525.4(KCNJ11):c.213A>G (p.Thr71=)
NM_000525.4(KCNJ11):c.214T>C (p.Leu72=)
NM_000525.4(KCNJ11):c.219C>T (p.Leu73=)
NM_000525.4(KCNJ11):c.222C>A (p.Ile74=) rs1016748766
NM_000525.4(KCNJ11):c.226A>G (p.Thr76Ala)
NM_000525.4(KCNJ11):c.238C>T (p.Leu80=) rs2133380682
NM_000525.4(KCNJ11):c.24C>T (p.Ile8=)
NM_000525.4(KCNJ11):c.252G>A (p.Leu84=) rs2133380668
NM_000525.4(KCNJ11):c.262A>G (p.Met88Val)
NM_000525.4(KCNJ11):c.271T>C (p.Trp91Arg)
NM_000525.4(KCNJ11):c.279dup (p.Ala94fs)
NM_000525.4(KCNJ11):c.27C>G (p.Pro9=) rs374134161
NM_000525.4(KCNJ11):c.298C>T (p.Leu100=) rs1472779613
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=) rs376773562
NM_000525.4(KCNJ11):c.317del (p.Thr106fs)
NM_000525.4(KCNJ11):c.31G>T (p.Glu11Ter)
NM_000525.4(KCNJ11):c.330T>C (p.Cys110=) rs2133380471
NM_000525.4(KCNJ11):c.336C>G (p.Thr112=) rs2133380454
NM_000525.4(KCNJ11):c.33A>G (p.Glu11=)
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.4(KCNJ11):c.393T>C (p.Ile131=) rs2133380368
NM_000525.4(KCNJ11):c.393del (p.Ile131fs)
NM_000525.4(KCNJ11):c.405G>A (p.Gly135=) rs752018515
NM_000525.4(KCNJ11):c.405G>T (p.Gly135=) rs752018515
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.407G>T (p.Arg136Leu) rs1479483693
NM_000525.4(KCNJ11):c.408C>T (p.Arg136=)
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
NM_000525.4(KCNJ11):c.459C>T (p.Asn153=) rs1249142709
NM_000525.4(KCNJ11):c.462C>T (p.Ile154=) rs145757832
NM_000525.4(KCNJ11):c.477C>T (p.Ile159=) rs1300114924
NM_000525.4(KCNJ11):c.481G>A (p.Ala161Thr)
NM_000525.4(KCNJ11):c.491T>C (p.Leu164Pro)
NM_000525.4(KCNJ11):c.495C>T (p.Gly165=) rs2133380191
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=) rs1287370462
NM_000525.4(KCNJ11):c.521C>A (p.Ala174Asp) rs587783670
NM_000525.4(KCNJ11):c.529A>C (p.Arg177=)
NM_000525.4(KCNJ11):c.537G>A (p.Glu179=) rs2133380098
NM_000525.4(KCNJ11):c.53C>A (p.Ala18Glu)
NM_000525.4(KCNJ11):c.540C>G (p.Thr180=)
NM_000525.4(KCNJ11):c.552C>T (p.Ser184=)
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp) rs2133380076
NM_000525.4(KCNJ11):c.556C>T (p.His186Tyr)
NM_000525.4(KCNJ11):c.558T>C (p.His186=) rs1953583830
NM_000525.4(KCNJ11):c.567C>A (p.Ile189=) rs114899765
NM_000525.4(KCNJ11):c.57G>A (p.Glu19=) rs748791717
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.606G>A (p.Val202=) rs1483079859
NM_000525.4(KCNJ11):c.612C>A (p.Asp204Glu)
NM_000525.4(KCNJ11):c.615C>T (p.Leu205=) rs2133379879
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) rs1554901747
NM_000525.4(KCNJ11):c.625A>G (p.Met209Val)
NM_000525.4(KCNJ11):c.62del (p.Pro21fs)
NM_000525.4(KCNJ11):c.630C>T (p.Ile210=) rs1564865359
NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.662G>C (p.Arg221Pro)
NM_000525.4(KCNJ11):c.663C>A (p.Arg221=) rs2133379806
NM_000525.4(KCNJ11):c.664A>C (p.Lys222Gln)
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.675C>T (p.Ser225=) rs2133379766
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys) rs587783673
NM_000525.4(KCNJ11):c.693G>A (p.Val231=)
NM_000525.4(KCNJ11):c.699C>G (p.Leu233=) rs1167669833
NM_000525.4(KCNJ11):c.714C>T (p.Ile238=) rs1953579486
NM_000525.4(KCNJ11):c.717C>T (p.Pro239=)
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=) rs886048042
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.778G>A (p.Val260Ile)
NM_000525.4(KCNJ11):c.789C>T (p.Ala263=) rs2133379516
NM_000525.4(KCNJ11):c.792C>T (p.Asn264=) rs1953577303
NM_000525.4(KCNJ11):c.795C>T (p.Ser265=) rs2133379505
NM_000525.4(KCNJ11):c.807C>T (p.Asp269=) rs1244489748
NM_000525.4(KCNJ11):c.811G>A (p.Ala271Thr)
NM_000525.4(KCNJ11):c.813_814insT (p.Pro272fs)
NM_000525.4(KCNJ11):c.828C>A (p.His276Gln)
NM_000525.4(KCNJ11):c.844G>C (p.Glu282Gln)
NM_000525.4(KCNJ11):c.847ATC[1] (p.Ile284del)
NM_000525.4(KCNJ11):c.852C>T (p.Ile284=) rs1800854
NM_000525.4(KCNJ11):c.864A>G (p.Glu288=) rs2133379341
NM_000525.4(KCNJ11):c.873G>A (p.Val291=) rs2133379304
NM_000525.4(KCNJ11):c.87C>G (p.Arg29=) rs539327013
NM_000525.4(KCNJ11):c.87C>T (p.Arg29=)
NM_000525.4(KCNJ11):c.885C>A (p.Gly295=) rs2133379277
NM_000525.4(KCNJ11):c.897G>A (p.Gln299=)
NM_000525.4(KCNJ11):c.901C>G (p.Arg301Gly) rs377091338
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys) rs377091338
NM_000525.4(KCNJ11):c.902G>C (p.Arg301Pro) rs74339576
NM_000525.4(KCNJ11):c.918C>G (p.Ala306=) rs377040874
NM_000525.4(KCNJ11):c.952A>G (p.Ile318Val)
NM_000525.4(KCNJ11):c.954T>C (p.Ile318=)
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.968A>G (p.Asp323Gly)
NM_000525.4(KCNJ11):c.978C>T (p.Tyr326=)
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760

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