ClinVar Miner

List of variants reported as likely pathogenic for diazoxide-resistant focal hyperinsulinism by Counsyl

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs) rs1554901829
NM_001287174.2(ABCC8):c.1012-2A>G rs1554938866
NM_001287174.2(ABCC8):c.1177-1G>A rs1167993548
NM_001287174.2(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_001287174.2(ABCC8):c.1467+1G>T rs1554933415
NM_001287174.2(ABCC8):c.1467+2T>C rs1057517128
NM_001287174.2(ABCC8):c.1468-2A>C rs1057516946
NM_001287174.2(ABCC8):c.148+2T>G rs1554949176
NM_001287174.2(ABCC8):c.149-1G>A rs1554948445
NM_001287174.2(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320
NM_001287174.2(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168
NM_001287174.2(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_001287174.2(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_001287174.2(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_001287174.2(ABCC8):c.1671+1G>C rs1057516509
NM_001287174.2(ABCC8):c.1817+1G>T rs1554926476
NM_001287174.2(ABCC8):c.1817+2_1817+6del rs1554926465
NM_001287174.2(ABCC8):c.1879del (p.His627fs) rs764613146
NM_001287174.2(ABCC8):c.2041-1G>A rs1554924630
NM_001287174.2(ABCC8):c.2041-21G>A rs746714109
NM_001287174.2(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_001287174.2(ABCC8):c.2116+1G>A rs1554924540
NM_001287174.2(ABCC8):c.2116+1G>T rs1554924540
NM_001287174.2(ABCC8):c.2116+2T>C rs786204676
NM_001287174.2(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_001287174.2(ABCC8):c.2202del (p.Ala736fs) rs1554924035
NM_001287174.2(ABCC8):c.220C>T (p.Arg74Trp) rs201682634
NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_001287174.2(ABCC8):c.2222+1G>A rs1554923999
NM_001287174.2(ABCC8):c.2222+1G>T rs1554923999
NM_001287174.2(ABCC8):c.2258+2T>C rs1057516589
NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.2(ABCC8):c.2559+1G>A rs749271190
NM_001287174.2(ABCC8):c.2686dup (p.His896fs) rs1057517019
NM_001287174.2(ABCC8):c.2697+1G>C rs774574576
NM_001287174.2(ABCC8):c.2698-1G>C rs1057517420
NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.2(ABCC8):c.2836_2837GA[1] (p.Arg947fs) rs1554913069
NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter) rs541269678
NM_001287174.2(ABCC8):c.290+2T>C rs1554948310
NM_001287174.2(ABCC8):c.291-2A>G rs786204695
NM_001287174.2(ABCC8):c.3111G>A (p.Trp1037Ter) rs1057516585
NM_001287174.2(ABCC8):c.3127_3129delinsCAGCCAGGAACTG (p.Thr1043fs) rs786204542
NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) rs886041392
NM_001287174.2(ABCC8):c.3154_3165+15del rs1554912381
NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_001287174.2(ABCC8):c.3402+1G>A rs1554911369
NM_001287174.2(ABCC8):c.3403-1G>A rs576684889
NM_001287174.2(ABCC8):c.3449_3450GT[1] (p.Val1151fs) rs1263082097
NM_001287174.2(ABCC8):c.3528C>G (p.Tyr1176Ter) rs1057516439
NM_001287174.2(ABCC8):c.3556_3560dup (p.Arg1187fs) rs1554910621
NM_001287174.2(ABCC8):c.3560+1G>A rs1554910610
NM_001287174.2(ABCC8):c.3560+1G>T rs1554910610
NM_001287174.2(ABCC8):c.3560+1del rs1554910616
NM_001287174.2(ABCC8):c.3577del (p.Asp1193fs) rs1057516317
NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) rs139964066
NM_001287174.2(ABCC8):c.3653+2T>A rs1057517274
NM_001287174.2(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_001287174.2(ABCC8):c.3756+1G>A rs1554906786
NM_001287174.2(ABCC8):c.3757-1G>A rs1554906449
NM_001287174.2(ABCC8):c.3757-2A>G rs1554906450
NM_001287174.2(ABCC8):c.4024C>T (p.Gln1342Ter) rs1057516718
NM_001287174.2(ABCC8):c.4029_4030insC (p.Lys1344fs) rs1554905787
NM_001287174.2(ABCC8):c.4075_4076delinsT (p.Lys1359fs) rs1057516890
NM_001287174.2(ABCC8):c.4122+1G>A rs797045211
NM_001287174.2(ABCC8):c.4122+1del rs1057517050
NM_001287174.2(ABCC8):c.4123-1G>T rs1057517406
NM_001287174.2(ABCC8):c.413-2A>G rs1057517015
NM_001287174.2(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_001287174.2(ABCC8):c.4201G>A (p.Gly1401Arg) rs137852676
NM_001287174.2(ABCC8):c.4256G>A (p.Arg1419His) rs1446306735
NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001287174.2(ABCC8):c.4278_4294del (p.Asp1428fs) rs1554904904
NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter) rs193922402
NM_001287174.2(ABCC8):c.4311-2A>G rs886041391
NM_001287174.2(ABCC8):c.4325del (p.Pro1442fs) rs758844607
NM_001287174.2(ABCC8):c.4343_4365del (p.Asp1448fs) rs1554904554
NM_001287174.2(ABCC8):c.4356G>A (p.Trp1452Ter) rs1057516404
NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn) rs72559716
NM_001287174.2(ABCC8):c.4415-13G>A rs1008906426
NM_001287174.2(ABCC8):c.4415-2A>G rs1554904136
NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) rs72559715
NM_001287174.2(ABCC8):c.4477del (p.Ala1493fs) rs1057516655
NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) rs28936371
NM_001287174.2(ABCC8):c.4481G>A (p.Arg1494Gln) rs746480424
NM_001287174.2(ABCC8):c.4548+2T>G rs1554904006
NM_001287174.2(ABCC8):c.4615C>T (p.Arg1539Ter) rs1411638309
NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro) rs72559713
NM_001287174.2(ABCC8):c.4688del (p.Pro1563fs) rs1554903370
NM_001287174.2(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.579+2T>A rs1449198328
NM_001287174.2(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001287174.2(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_001287174.2(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_001287174.2(ABCC8):c.823-1G>A rs1247430874

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