ClinVar Miner

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

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
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.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.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser) rs781090024 0.00002
NM_000352.6(ABCC8):c.1177-1G>A rs1167993548 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.2556+1G>T rs749271190 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 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.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.4376T>G (p.Leu1459Arg) rs971604271 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.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NC_000011.9:g.(?_17433888)_(17434943_?)del
NM_000352.6(ABCC8):c.1011+1G>A
NM_000352.6(ABCC8):c.1177-1G>C
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val) rs1554949196
NM_000352.6(ABCC8):c.148+2T>C rs1554949176
NM_000352.6(ABCC8):c.148+2T>G rs1554949176
NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)
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.1672-20A>G rs931436550
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.1924-1G>C
NM_000352.6(ABCC8):c.1924-2A>G
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)
NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
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.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.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.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2694+1G>A
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.290+1G>A rs2133728249
NM_000352.6(ABCC8):c.2921-1G>A rs772682942
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu) rs2133711374
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
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.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.3557+1G>A rs1554910610
NM_000352.6(ABCC8):c.3557+1G>T rs1554910610
NM_000352.6(ABCC8):c.3650+1G>T
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+2C>T rs760196276
NM_000352.6(ABCC8):c.3754-1G>A rs1554906449
NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)
NM_000352.6(ABCC8):c.3867+1G>A
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs) rs1953988179
NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter) rs1953981445
NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)
NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser) rs925231098
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro) rs2133402479
NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
NM_000352.6(ABCC8):c.4199-2A>G rs1953885548
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.4298G>A (p.Gly1433Asp)
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)
NM_000352.6(ABCC8):c.4411+2T>C rs1953843456
NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
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.4544C>T (p.Thr1515Met) rs769989185
NM_000352.6(ABCC8):c.4545+1G>C
NM_000352.6(ABCC8):c.4546-1G>A
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly) rs2133393241
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter) rs1411638309
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.579+1G>A
NM_000352.6(ABCC8):c.579+2T>C rs1449198328
NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)
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.67A>C (p.Asn23His)
NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)
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.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)

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