List of variants in gene KCNJ11 studied for hyperinsulinism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 168

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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.584G>A (p.Arg195His)	rs5217	0.00131
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.852C>A (p.Ile284=)	rs1800854	0.00038
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.*546G>A	rs886048037	0.00016
NM_000525.4(KCNJ11):c.*697G>A	rs117976105	0.00014
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)	rs1014454531	0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)	rs145935651	0.00011
NM_000525.4(KCNJ11):c.-54C>T	rs1016780684	0.00010
NM_000525.4(KCNJ11):c.*218G>T	rs886048039	0.00009
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)	rs770375846	0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)	rs72554079	0.00008
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)	rs758749160	0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)	rs529884745	0.00006
NM_000525.4(KCNJ11):c.86G>A (p.Arg29His)	rs988002138	0.00006
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)	rs774714794	0.00004
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.1112G>A (p.Arg371His)	rs1233061680	0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)	rs770609243	0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)	rs750778014	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.*1055T>A	rs886048032	0.00002
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.292G>A (p.Gly98Ser)	rs1554901851	0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)	rs756424776	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.970G>A (p.Gly324Arg)	rs1193170151	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.*311C>T	rs886048038	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.100C>T (p.Arg34Cys)	rs954727530	0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)	rs138125678	0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)	rs141145502	0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)	rs745379486	0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)	rs797045635	0.00001
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)	rs750689750	0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)	rs114613745	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.407G>A (p.Arg136His)	rs1479483693	0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)	rs371977895	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.527G>A (p.Arg176His)	rs1266231295	0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)	rs1371185696	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_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)	rs1440128889
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.-135_-134insCT	rs1554901983
NM_000525.4(KCNJ11):c.-150G>A	rs886048043
NM_000525.4(KCNJ11):c.-424C>T	rs1953601577
NM_000525.4(KCNJ11):c.1030_1031del (p.Cys344fs)
NM_000525.4(KCNJ11):c.1033A>G (p.Thr345Ala)
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
NM_000525.4(KCNJ11):c.1060A>G (p.Ser354Gly)
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)	rs1337406718
NM_000525.4(KCNJ11):c.1090del (p.Ala364fs)
NM_000525.4(KCNJ11):c.1096G>A (p.Gly366Arg)
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)	rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
NM_000525.4(KCNJ11):c.110C>G (p.Ser37Cys)
NM_000525.4(KCNJ11):c.1121C>G (p.Pro374Arg)
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	rs1001873841
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.179T>A (p.Phe60Tyr)	rs387906783
NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg)	rs1057518775
NM_000525.4(KCNJ11):c.190G>T (p.Val64Leu)
NM_000525.4(KCNJ11):c.212C>T (p.Thr71Ile)
NM_000525.4(KCNJ11):c.224T>A (p.Phe75Tyr)
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)	rs1554901866
NM_000525.4(KCNJ11):c.290dup (p.His97fs)	rs1554901854
NM_000525.4(KCNJ11):c.293G>A (p.Gly98Asp)
NM_000525.4(KCNJ11):c.325C>T (p.Pro109Ser)
NM_000525.4(KCNJ11):c.344A>G (p.His115Arg)
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.36C>A (p.Tyr12Ter)	rs104894236
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)	rs766891274
NM_000525.4(KCNJ11):c.430C>G (p.Leu144Val)
NM_000525.4(KCNJ11):c.433G>T (p.Ala145Ser)
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.46C>T (p.Arg16Cys)
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)	rs587783669
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)	rs865963367
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)	rs80356624
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)	rs1554901747
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)	rs1554901747
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000525.4(KCNJ11):c.628A>G (p.Ile210Val)
NM_000525.4(KCNJ11):c.62C>T (p.Pro21Leu)
NM_000525.4(KCNJ11):c.635G>A (p.Ser212Asn)
NM_000525.4(KCNJ11):c.655G>T (p.Val219Leu)
NM_000525.4(KCNJ11):c.65C>T (p.Ala22Val)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)	rs768909861
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)	rs1554901718
NM_000525.4(KCNJ11):c.719T>C (p.Met240Thr)
NM_000525.4(KCNJ11):c.730G>A (p.Val244Met)
NM_000525.4(KCNJ11):c.733G>T (p.Gly245Cys)
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)	rs886048042
NM_000525.4(KCNJ11):c.758C>T (p.Ala253Val)
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)	rs1554901690
NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile)	rs1437510576
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)	rs1554901679
NM_000525.4(KCNJ11):c.814C>T (p.Pro272Ser)
NM_000525.4(KCNJ11):c.817A>G (p.Ser273Gly)
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)	rs1554901658
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
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)	rs377091338
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)	rs761575495
NM_000525.4(KCNJ11):c.943T>G (p.Phe315Val)
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)	rs550315112
NM_000525.4(KCNJ11):c.973C>T (p.Arg325Cys)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)	rs1489389760

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