ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
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.4198G>A (p.Gly1400Arg) rs137852676 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.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 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.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs) rs1554924035 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter) rs1484689392 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.2992C>T (p.Arg998Ter) rs769518471 0.00001
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281 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.4157C>T (p.Ser1386Phe) rs72559718 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter) rs1395990892 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr) rs72559717 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.693G>A (p.Trp231Ter) rs1957198348 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser) rs1462559571 0.00001
NM_000352.6(ABCC8):c.970G>A (p.Val324Met) rs1328072266 0.00001
NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter) rs1957147183 0.00001
NC_000011.10:g.(?_17416920)_(17432254_?)del
NC_000011.10:g.17395719del rs2133401493
NC_000011.9:g.(?_17414433)_(17438525_?)del
NC_000011.9:g.(?_17448586)_(17453801_?)del
NC_000011.9:g.(?_17464257)_(17464869_?)del
NC_000011.9:g.(?_17464257)_(17474840_?)del
NC_000011.9:g.(?_17482025)_(17498513_?)del
NM_000352.3:c.85_1011+8del
NM_000352.6(ABCC8):c.-9_1dup (p.Met1fs)
NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter) rs2133674070
NM_000352.6(ABCC8):c.1011+1G>T rs2133673996
NM_000352.6(ABCC8):c.1068C>G (p.Tyr356Ter)
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter) rs2133616750
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter) rs771959876
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.1437del (p.Lys480fs)
NM_000352.6(ABCC8):c.1452_1461del (p.Gln485fs)
NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter) rs1956391008
NM_000352.6(ABCC8):c.1473T>G (p.Tyr491Ter)
NM_000352.6(ABCC8):c.148+1del rs2133737085
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter) rs1591928988
NM_000352.6(ABCC8):c.1536C>A (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1553del (p.Phe518fs) rs2133595741
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) rs1591832463
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1676_1677delinsAA (p.Phe559Ter)
NM_000352.6(ABCC8):c.1769del (p.Leu590fs)
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu) rs72559726
NM_000352.6(ABCC8):c.1810dup (p.Leu604fs) rs2133548955
NM_000352.6(ABCC8):c.1817+2T>C
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
NM_000352.6(ABCC8):c.1955_1958del (p.Ala652fs)
NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
NM_000352.6(ABCC8):c.1_5del (p.Met1fs)
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
NM_000352.6(ABCC8):c.2031C>A (p.Cys677Ter)
NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser) rs1159625966
NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter) rs751848086
NM_000352.6(ABCC8):c.2114del (p.Arg705fs)
NM_000352.6(ABCC8):c.2117-1G>A rs797045207
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2117-3_2117-2inv
NM_000352.6(ABCC8):c.2222+1G>T rs1554923999
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter) rs753296261
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs) rs2133487890
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter) rs751826777
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs) rs1955018104
NM_000352.6(ABCC8):c.227del (p.Ile76fs)
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2585_2588del (p.His862fs)
NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter) rs2133460957
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2695-2A>T rs863225278
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter) rs1954644972
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.2941G>T (p.Glu981Ter)
NM_000352.6(ABCC8):c.2953del (p.Leu985fs)
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter) rs1954577994
NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)
NM_000352.6(ABCC8):c.2T>C (p.Met1Thr)
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3038C>A (p.Ser1013Ter)
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs) rs1954568421
NM_000352.6(ABCC8):c.3095G>A (p.Trp1032Ter)
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
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.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3283A>T (p.Arg1095Ter)
NM_000352.6(ABCC8):c.333del (p.Met112fs) rs2133711362
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs) rs1954474111
NM_000352.6(ABCC8):c.3439del (p.Leu1147fs) rs2133439017
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3568C>T (p.Gln1190Ter)
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter) rs1283621955
NM_000352.6(ABCC8):c.3674del (p.Lys1225fs)
NM_000352.6(ABCC8):c.3682del (p.Glu1228fs)
NM_000352.6(ABCC8):c.3737G>A (p.Trp1246Ter)
NM_000352.6(ABCC8):c.3738G>A (p.Trp1246Ter)
NM_000352.6(ABCC8):c.375_376del (p.His125fs)
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs) rs2133411551
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.3952del (p.Leu1317_Leu1318insTer) rs2133408572
NM_000352.6(ABCC8):c.3966_3972del (p.Glu1323fs) rs2133408466
NM_000352.6(ABCC8):c.4001_4019dup (p.Gln1341fs) rs2133407387
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter) rs374602183
NM_000352.6(ABCC8):c.4119+1del rs1057517050
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser) rs925231098
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4148G>A (p.Gly1383Glu)
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs) rs1554905145
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) rs387906408
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val) rs587783171
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
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.4273del (p.Leu1425fs)
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4284del (p.Val1429fs)
NM_000352.6(ABCC8):c.429G>A (p.Trp143Ter)
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val) rs2133398429
NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu) rs2133398414
NM_000352.6(ABCC8):c.4400del (p.Pro1467fs)
NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His) rs72559716
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs) rs863225279
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu) rs751591418
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn) rs2133394768
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
NM_000352.6(ABCC8):c.4545+1del rs2133394678
NM_000352.6(ABCC8):c.4588del (p.Arg1530fs) rs2133393098
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4608+1G>A rs2133392952
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter) rs758754046
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter) rs1591896370
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.544del (p.Leu182fs) rs2133686985
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.56del (p.Gln19fs) rs2133738006
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.643del (p.Val215fs) rs1957201685
NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter) rs2133680142
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter) rs2133679771
NM_000352.6(ABCC8):c.725del (p.Lys242fs) rs1957196622
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.6(ABCC8):c.76del (p.Cys26fs) rs2133737797
NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter) rs2133679133
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.817del (p.Gln273fs) rs2133678848
NM_000352.6(ABCC8):c.81dup (p.Val28fs) rs2133737748
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter) rs2133675152
NM_000352.6(ABCC8):c.8del (p.Leu3fs) rs940471335
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)

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