ClinVar Miner

List of variants in gene KCNJ11 studied for not specified

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Total variants: 50
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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.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_001166290.2(KCNJ11):c.-17+514C>T rs146464426 0.00156
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.843C>T (p.Leu281=) rs116392938 0.00029
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.526C>T (p.Arg176Cys) rs201264306 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 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.567C>T (p.Ile189=) rs114899765 0.00004
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=) rs139445409 0.00003
NM_000525.4(KCNJ11):c.-291G>T rs1027378927 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000525.4(KCNJ11):c.805G>A (p.Asp269Asn) rs756552714 0.00002
NM_000525.4(KCNJ11):c.-111C>T rs994122287 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.1152C>T (p.Ile384=) rs184094021 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.291C>T (p.His97=) rs371886780 0.00001
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=) rs1272384074 0.00001
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys) rs763728797 0.00001
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-216G>T rs561579833
NM_000525.4(KCNJ11):c.-314dup rs781416603
NM_000525.4(KCNJ11):c.-507del rs35513985
NM_000525.4(KCNJ11):c.-507dup rs35513985
NM_000525.4(KCNJ11):c.11G>A (p.Arg4His)
NM_000525.4(KCNJ11):c.179T>C (p.Phe60Ser) rs387906783
NM_000525.4(KCNJ11):c.248G>C (p.Trp83Ser) rs2133380675
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys) rs587783667
NM_000525.4(KCNJ11):c.490C>T (p.Leu164Phe) rs1554901796
NM_000525.4(KCNJ11):c.629T>C (p.Ile210Thr) rs2133379868
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr) rs1554901583
NM_001166290.2(KCNJ11):c.-17+477_-17+478delinsTT rs2133381941

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