ClinVar Miner

List of variants in gene ABCC8 reported as likely pathogenic for congenital isolated hyperinsulinism

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00003
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His) rs1272388614 0.00003
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys) rs751228166 0.00003
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu) rs377686759 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000352.6(ABCC8):c.1176+2T>C rs750586210 0.00001
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val) rs2133738359 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro) rs1554933168 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397 0.00001
NM_000352.6(ABCC8):c.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met) rs377405677 0.00001
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg) rs781059815 0.00001
NM_000352.6(ABCC8):c.2116+2T>C rs786204676 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.2695-1G>C rs1057517420 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00001
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs) rs766033867 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315 0.00001
NM_000352.6(ABCC8):c.3400-1G>A rs576684889 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.3868-1G>A rs766431403 0.00001
NM_000352.6(ABCC8):c.3988+2T>C rs745349258 0.00001
NM_000352.6(ABCC8):c.4119+1G>A rs797045211 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys) rs776610373 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln) rs746480424 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys) rs756823374 0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202 0.00001
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280 0.00001
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000352.6(ABCC8):c.1012-2A>G rs1554938866
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter) rs2496811011
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter) rs2496810710
NM_000352.6(ABCC8):c.1209del (p.Thr404fs) rs2496781833
NM_000352.6(ABCC8):c.122T>C (p.Phe41Ser) rs2496929792
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter) rs767500007
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1467+1G>T rs1554933415
NM_000352.6(ABCC8):c.1467+2T>C rs1057517128
NM_000352.6(ABCC8):c.1468-2A>C rs1057516946
NM_000352.6(ABCC8):c.1468-2A>G
NM_000352.6(ABCC8):c.148+1G>A rs766312766
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1731del (p.Phe577fs)
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373
NM_000352.6(ABCC8):c.1817+1G>T rs1554926476
NM_000352.6(ABCC8):c.1817+2T>C rs772723050
NM_000352.6(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.6(ABCC8):c.1858del (p.Arg620fs) rs2496672003
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs) rs2496671115
NM_000352.6(ABCC8):c.1901del (p.Pro634fs)
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter) rs2496668620
NM_000352.6(ABCC8):c.1973del (p.Gly658fs) rs2496668119
NM_000352.6(ABCC8):c.1A>G (p.Met1Val) rs2496931481
NM_000352.6(ABCC8):c.1del (p.Met1fs) rs2133738442
NM_000352.6(ABCC8):c.2004del (p.Ser669fs) rs2496667722
NM_000352.6(ABCC8):c.2041-1G>A rs1554924630
NM_000352.6(ABCC8):c.206del (p.Pro69fs) rs2496919200
NM_000352.6(ABCC8):c.2070del (p.Asp691fs) rs2496663531
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2116+1G>A rs1554924540
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2116+3A>G
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del) rs760520781
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2222+1G>T rs1554923999
NM_000352.6(ABCC8):c.2245_2249del (p.Glu749fs)
NM_000352.6(ABCC8):c.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2291+1G>A rs1160946320
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2492del (p.Gly831fs)
NM_000352.6(ABCC8):c.2507G>A (p.Arg836Gln)
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2662del (p.His888fs)
NM_000352.6(ABCC8):c.267del (p.Ile89fs) rs2133728449
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2689G>T (p.Asp897Tyr) rs2496556981
NM_000352.6(ABCC8):c.2694+1G>C rs774574576
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.2917G>T (p.Glu973Ter)
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3009C>G (p.Tyr1003Ter)
NM_000352.6(ABCC8):c.3096_3097delinsAA (p.Trp1032_Leu1033delinsTer)
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter) rs1057516585
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs) rs786204542
NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs) rs2496530024
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3151_3162+15del rs1554912381
NM_000352.6(ABCC8):c.3162+1G>A
NM_000352.6(ABCC8):c.3261G>A (p.Trp1087Ter)
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs) rs2496527262
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs) rs2496527196
NM_000352.6(ABCC8):c.326del (p.Pro109fs) rs2496898064
NM_000352.6(ABCC8):c.3330-2A>G
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs) rs2496519550
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3399G>T (p.Gln1133His)
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg) rs1262517518
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter) rs764564256
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs) rs2496513303
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs) rs2496512657
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu) rs137852675
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs) rs1554910621
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3557+1del rs1554910616
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.3650+2T>A rs1057517274
NM_000352.6(ABCC8):c.3650+2T>C
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs) rs2496475651
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter) rs2496475095
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3753+1G>T rs1554906786
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-2A>G rs1554906450
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs) rs2496469826
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs) rs1954013968
NM_000352.6(ABCC8):c.3867+1G>A rs2496469312
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs) rs2496465721
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter) rs2496465239
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs) rs2496465221
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs) rs2496464774
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter) rs552324811
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs) rs1554905787
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4120-1G>T rs1057517406
NM_000352.6(ABCC8):c.413-2A>G rs1057517015
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro) rs2496452651
NM_000352.6(ABCC8):c.4174T>A (p.Phe1392Ile)
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs) rs2496450975
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu) rs1436692401
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4288C>T (p.Leu1430Phe)
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.432_435dup (p.Ala146fs)
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs) rs1953845407
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-2A>G rs1554904136
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs) rs1057516655
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr) rs2133394768
NM_000352.6(ABCC8):c.4545+2T>G rs1554904006
NM_000352.6(ABCC8):c.4565del (p.Val1522fs)
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val) rs760494159
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer) rs2496865274
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter) rs1591896370
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.580-1G>C
NM_000352.6(ABCC8):c.61del (p.Val21fs) rs2133737961
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.698_699del (p.Met233fs) rs2496853367
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs) rs2496853251
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs) rs2496852810
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs) rs2496852584
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.966del (p.Ile323fs) rs2496844281
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs) rs2496843903

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