ClinVar Miner

List of variants reported as likely pathogenic for Persistent hyperinsulinemic hypoglycemia of infancy

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ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_000352.5(ABCC8):c.1012-2A>G rs1554938866
NM_000352.5(ABCC8):c.1177-1G>A rs1167993548
NM_000352.5(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.5(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.5(ABCC8):c.1467+1G>T rs1554933415
NM_000352.5(ABCC8):c.1467+2T>C rs1057517128
NM_000352.5(ABCC8):c.1468-2A>C rs1057516946
NM_000352.5(ABCC8):c.148+2T>G rs1554949176
NM_000352.5(ABCC8):c.149-1G>A rs1554948445
NM_000352.5(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320
NM_000352.5(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168
NM_000352.5(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_000352.5(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.5(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_000352.5(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.5(ABCC8):c.1671+1G>C rs1057516509
NM_000352.5(ABCC8):c.1817+1G>T rs1554926476
NM_000352.5(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.5(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.5(ABCC8):c.2041-1G>A rs1554924630
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000352.5(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.5(ABCC8):c.2116+1G>A rs1554924540
NM_000352.5(ABCC8):c.2116+1G>T rs1554924540
NM_000352.5(ABCC8):c.2116+2T>C rs786204676
NM_000352.5(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.5(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.2202del (p.Ala736fs) rs1554924035
NM_000352.5(ABCC8):c.220C>T (p.Arg74Trp) rs201682634
NM_000352.5(ABCC8):c.2222+1G>A rs1554923999
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2255+2T>C rs1057516589
NM_000352.5(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.2556+1G>A rs749271190
NM_000352.5(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.5(ABCC8):c.2694+1G>C rs774574576
NM_000352.5(ABCC8):c.2695-1G>C rs1057517420
NM_000352.5(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.5(ABCC8):c.2833_2834GA[1] (p.Arg946fs) rs1554913069
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.291-2A>G rs786204695
NM_000352.5(ABCC8):c.2921-9G>A rs757171524
NM_000352.5(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.5(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.5(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.5(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.5(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.5(ABCC8):c.3399+1G>A rs1554911369
NM_000352.5(ABCC8):c.3400-1G>A rs576684889
NM_000352.5(ABCC8):c.3446_3447GT[1] (p.Val1150fs) rs1263082097
NM_000352.5(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.5(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.5(ABCC8):c.3557+1G>A rs1554910610
NM_000352.5(ABCC8):c.3557+1G>T rs1554910610
NM_000352.5(ABCC8):c.3557+1del rs1554910616
NM_000352.5(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.5(ABCC8):c.3650+2T>A rs1057517274
NM_000352.5(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.5(ABCC8):c.3753+1G>A rs1554906786
NM_000352.5(ABCC8):c.3754-1G>A rs1554906449
NM_000352.5(ABCC8):c.3754-2A>G rs1554906450
NM_000352.5(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.5(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.5(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.5(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4119+1del rs1057517050
NM_000352.5(ABCC8):c.4120-1G>T rs1057517406
NM_000352.5(ABCC8):c.413-2A>G rs1057517015
NM_000352.5(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000352.5(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.5(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.5(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.5(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.5(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.5(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.5(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.5(ABCC8):c.4412-13G>A rs1008906426
NM_000352.5(ABCC8):c.4412-2A>G rs1554904136
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.5(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.5(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.5(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.5(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.5(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424
NM_000352.5(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.5(ABCC8):c.4545+2T>G rs1554904006
NM_000352.5(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.5(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.5(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.579+2T>A rs1449198328
NM_000352.5(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.5(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.5(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.5(ABCC8):c.823-1G>A rs1247430874

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