ClinVar Miner

List of variants in gene ABCC8 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 353
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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.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059 0.00006
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.4008G>C (p.Lys1336Asn) rs67767715 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.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys) rs372307320 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 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.3517G>A (p.Val1173Met) rs141322087 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.1177-1G>A rs1167993548 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.1671+1G>C rs1057516509 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 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.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.2556+1G>T 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.3126_3127insAGGAACTG (p.Leu1043fs) rs766033867 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.3651-1G>C rs768820409 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg) rs748233295 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 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.4478G>T (p.Arg1493Leu) rs746480424 0.00001
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815 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.686C>T (p.Thr229Ile) rs768017509 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.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NC_000011.9:g.(?_17433888)_(17434943_?)del
NM_000352.6(ABCC8):c.1011+1G>A
NM_000352.6(ABCC8):c.1012-2A>G rs1554938866
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
NM_000352.6(ABCC8):c.1177-1G>C
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val) rs2133738359
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg) rs1564955779
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs) rs1554933565
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val) rs1554949196
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
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.148+2T>C rs1554949176
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.149-2A>T
NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter) rs765090096
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro) rs1419269417
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs) rs1057516665
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu) rs753618932
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.1813del (p.Leu604_Val605insTer)
NM_000352.6(ABCC8):c.1817+1G>A
NM_000352.6(ABCC8):c.1817+1G>T rs1554926476
NM_000352.6(ABCC8):c.1817+2T>C
NM_000352.6(ABCC8):c.1817+2_1817+6del rs1554926465
NM_000352.6(ABCC8):c.1818-1G>A
NM_000352.6(ABCC8):c.1818-2A>C
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
NM_000352.6(ABCC8):c.1924-1G>C
NM_000352.6(ABCC8):c.1924-2A>G
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)
NM_000352.6(ABCC8):c.1del (p.Met1fs) rs2133738442
NM_000352.6(ABCC8):c.2040+1G>A
NM_000352.6(ABCC8):c.2041-1G>A rs1554924630
NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs) rs1057516542
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
NM_000352.6(ABCC8):c.2116+1G>A rs1554924540
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) rs786204717
NM_000352.6(ABCC8):c.2140C>T (p.Gln714Ter)
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser) rs1591794677
NM_000352.6(ABCC8):c.2147G>A (p.Gly716Asp) rs72559723
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
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.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2204G>A (p.Gly735Glu)
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
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.2255+2T>C rs1057516589
NM_000352.6(ABCC8):c.2256-1G>T
NM_000352.6(ABCC8):c.2291+1G>A rs1160946320
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2497C>T (p.Gln833Ter)
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2556_2556+15delinsCCTGGGGTCCTTGT
NM_000352.6(ABCC8):c.2557-2A>G
NM_000352.6(ABCC8):c.2654T>A (p.Leu885Ter)
NM_000352.6(ABCC8):c.2676C>G (p.Tyr892Ter)
NM_000352.6(ABCC8):c.267del (p.Ile89fs) rs2133728449
NM_000352.6(ABCC8):c.2683dup (p.His895fs) rs1057517019
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2694+1G>A
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+1G>A rs2133728249
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.290+2del
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter) rs192863214
NM_000352.6(ABCC8):c.3062_3065dup (p.Lys1022fs)
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)
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+2T>A
NM_000352.6(ABCC8):c.3231del (p.Cys1078fs)
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3302del (p.Leu1101fs)
NM_000352.6(ABCC8):c.3329+1G>A
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu) rs2133711374
NM_000352.6(ABCC8):c.3330-1G>C
NM_000352.6(ABCC8):c.3336del (p.Phe1112fs)
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.3399+1G>A rs1554911369
NM_000352.6(ABCC8):c.3399+2T>C
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr) rs1954422814
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter) rs1057516439
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) 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.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.3650+1G>T
NM_000352.6(ABCC8):c.3650+2T>A rs1057517274
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs) rs1554946437
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu) rs2133413622
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3753+1G>T
NM_000352.6(ABCC8):c.3753+2C>T rs760196276
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3754-2A>G rs1554906450
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)
NM_000352.6(ABCC8):c.3804del (p.Asn1269fs)
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
NM_000352.6(ABCC8):c.3867+1G>A
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs) rs1953988179
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
NM_000352.6(ABCC8):c.3941_3966del (p.Ile1314fs)
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter) rs1953981445
NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)
NM_000352.6(ABCC8):c.3989_3990insG (p.Pro1331fs)
NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
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>A (p.Arg1352His) rs28936370
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.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4119+1G>A rs797045211
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.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.4146T>G (p.Ser1382Arg) rs886039877
NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)
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)
NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
NM_000352.6(ABCC8):c.4199-2A>G rs1953885548
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser) rs28938469
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr) rs2133401009
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs) rs1554904904
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs) rs2133400786
NM_000352.6(ABCC8):c.4298G>A (p.Gly1433Asp)
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs) rs1554904554
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter) rs1057516404
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
NM_000352.6(ABCC8):c.4411+2T>C rs1953843456
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4412-2A>C
NM_000352.6(ABCC8):c.4412-2A>G rs1554904136
NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
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.4477del (p.Arg1493fs) rs1953791177
NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro) rs746480424
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn) rs2133394860
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
NM_000352.6(ABCC8):c.4538T>C (p.Met1513Thr)
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185
NM_000352.6(ABCC8):c.4545+1G>C
NM_000352.6(ABCC8):c.4545+2T>C
NM_000352.6(ABCC8):c.4545+2T>G rs1554904006
NM_000352.6(ABCC8):c.4546-1G>A
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly) rs2133393241
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg) rs2133390317
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.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs) rs1554903370
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter) rs758754046
NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro) rs1002070797
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.56del (p.Gln19fs) rs2133738006
NM_000352.6(ABCC8):c.579+1G>A
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.579+2T>C rs1449198328
NM_000352.6(ABCC8):c.580-2A>G
NM_000352.6(ABCC8):c.580A>T (p.Arg194Ter)
NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)
NM_000352.6(ABCC8):c.61del (p.Val21fs) rs2133737961
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys) rs2133680513
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn) rs2133680501
NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr) rs2133680409
NM_000352.6(ABCC8):c.643G>A (p.Val215Ile) rs2133680286
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000352.6(ABCC8):c.67A>C (p.Asn23His)
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter) rs1057517139
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter) rs2133679771
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
NM_000352.6(ABCC8):c.795dup (p.Leu266fs) rs1057516654
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.80T>C (p.Phe27Ser)
NM_000352.6(ABCC8):c.822+2T>C
NM_000352.6(ABCC8):c.823-1G>A rs1247430874
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
NM_000352.6(ABCC8):c.857_859delinsGCAT (p.Ala286fs)
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
NM_000352.6(ABCC8):c.95A>G (p.Asn32Ser)
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)

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