ClinVar Miner

List of variants in gene ABCC8 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP
NM_000352.4(ABCC8):c.2256-16del rs774508952
NM_000352.4(ABCC8):c.3557+1del rs1554910616
NM_000352.4(ABCC8):c.4117_4119del (p.Lys1373del) rs1554905655
NM_000352.4(ABCC8):c.4119+1del rs1057517050
NM_000352.5(ABCC8):c.1012-2A>G rs1554938866
NM_000352.5(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.5(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.5(ABCC8):c.1177-1G>A rs1167993548
NM_000352.5(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.5(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.5(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
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.1484G>A (p.Arg495Gln) rs1420601296
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.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.5(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984
NM_000352.5(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.5(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.5(ABCC8):c.1630+1G>T rs773306994
NM_000352.5(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.5(ABCC8):c.1671+1G>C rs1057516509
NM_000352.5(ABCC8):c.1672-20A>G
NM_000352.5(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.5(ABCC8):c.1817+1G>T rs1554926476
NM_000352.5(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.5(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.5(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.5(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.5(ABCC8):c.2041-12C>A rs201419039
NM_000352.5(ABCC8):c.2041-1G>A rs1554924630
NM_000352.5(ABCC8):c.2041-21G>A rs746714109
NM_000352.5(ABCC8):c.2041-25G>A rs1554924660
NM_000352.5(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
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.2180T>G (p.Leu727Arg) rs1554924079
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+15C>A rs377174421
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.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.5(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.5(ABCC8):c.2556+1G>A rs749271190
NM_000352.5(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.5(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.5(ABCC8):c.2694+1G>C rs774574576
NM_000352.5(ABCC8):c.2694+3G>A rs1554914779
NM_000352.5(ABCC8):c.2694+4A>T rs1554914771
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.307C>T (p.His103Tyr) rs751209734
NM_000352.5(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
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.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.5(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
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.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.5(ABCC8):c.3509del (p.Leu1170fs) rs587783169
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.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.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.5(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
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.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.5(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.5(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.3868-1G>A rs766431403
NM_000352.5(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.5(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.5(ABCC8):c.3989-3C>G rs1324242791
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.5(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
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.403C>G (p.Leu135Val) rs368450282
NM_000352.5(ABCC8):c.4072_4073delinsT (p.Lys1358fs) rs1057516890
NM_000352.5(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.5(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.4120-1G>T rs1057517406
NM_000352.5(ABCC8):c.413-2A>G rs1057517015
NM_000352.5(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.5(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.5(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.5(ABCC8):c.415del (p.Leu139fs) rs1057516591
NM_000352.5(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
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.4253G>T (p.Arg1418Leu) 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.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.5(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.5(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
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.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.5(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
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.4545+2T>G rs1554904006
NM_000352.5(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.5(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
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.524T>A (p.Leu175Gln) rs1554943599
NM_000352.5(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.5(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.579+2T>A rs1449198328
NM_000352.5(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000352.5(ABCC8):c.589_591TTC[1] (p.Phe198del) rs772409200
NM_000352.5(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.5(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_000352.5(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
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
NM_000352.5(ABCC8):c.823-7T>A rs1554942148
NM_000352.5(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.5(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.5(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.5(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.5(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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