ClinVar Miner

List of variants in gene KCNJ11 studied for type 2 diabetes mellitus

Included ClinVar conditions (37):
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Gene type:
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Total variants: 70
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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.801C>G (p.Leu267=) rs5216 0.01521
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
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.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
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.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.970G>A (p.Gly324Arg) rs1193170151 0.00002
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.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 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.761C>T (p.Pro254Leu) rs104894237 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 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.-150G>A rs886048043
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.1105C>A (p.Arg369Ser)
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.165C>A (p.Phe55Leu)
NM_000525.4(KCNJ11):c.270G>A (p.Trp90Ter)
NM_000525.4(KCNJ11):c.286G>A (p.Ala96Thr)
NM_000525.4(KCNJ11):c.368del (p.Phe123fs)
NM_000525.4(KCNJ11):c.399del (p.Phe133fs)
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser) rs766891274
NM_000525.4(KCNJ11):c.491_494dup (p.Cys166fs)
NM_000525.4(KCNJ11):c.570C>A (p.Ala190=) rs5218
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)
NM_000525.4(KCNJ11):c.639del (p.Thr214fs)
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys) rs587783673
NM_000525.4(KCNJ11):c.703C>T (p.Gln235Ter)
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.808del (p.Leu270fs)
NM_000525.4(KCNJ11):c.816_829del (p.Ser273fs)
NM_000525.4(KCNJ11):c.844G>T (p.Glu282Ter)
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000525.4(KCNJ11):c.8C>T (p.Ser3Phe) rs587783674
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs) rs1554901596
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
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)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760

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