ClinVar Miner

List of variants in gene KCNJ11 studied for Hyperinsulinemic hypoglycemia, familial, 2

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Total variants: 84
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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.*441T>C rs2285676 0.43747
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.*376C>T rs5208 0.01164
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000525.4(KCNJ11):c.*1197G>A rs191682072 0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_000525.4(KCNJ11):c.-546G>T rs886048045 0.00041
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000525.4(KCNJ11):c.*546G>A rs886048037 0.00016
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000525.4(KCNJ11):c.*1055T>A rs886048032 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_000525.4(KCNJ11):c.*311C>T rs886048038 0.00003
NM_000525.4(KCNJ11):c.*849C>G rs1272490539 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.-179C>T rs776949660 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
NM_000525.4(KCNJ11):c.*1220G>A rs1457465996 0.00001
NM_000525.4(KCNJ11):c.*1562A>G rs886048031 0.00001
NM_000525.4(KCNJ11):c.*701A>T rs5207 0.00001
NM_000525.4(KCNJ11):c.-37C>T rs753392628 0.00001
NM_000525.4(KCNJ11):c.-515G>A rs886048044 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 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.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val) rs754683593 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.*1037G>T rs767140617
NM_000525.4(KCNJ11):c.*1415G>A rs955060881
NM_000525.4(KCNJ11):c.*50G>A rs886048041
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000525.4(KCNJ11):c.*678C>T rs886048036
NM_000525.4(KCNJ11):c.*732C>T rs886048035
NM_000525.4(KCNJ11):c.*842C>G rs1591693562
NM_000525.4(KCNJ11):c.*937C>T rs886048033
NM_000525.4(KCNJ11):c.*99C>G rs886048040
NM_000525.4(KCNJ11):c.-134G>T rs387906398
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.-424C>T rs1953601577
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter) rs879253757
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) rs1953591194
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro) rs1591695840
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His) rs1554901747
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=) rs886048042
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.889ACC[1] (p.Thr298del) rs1953574433

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