ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for type 2 diabetes mellitus

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
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.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.1176+2T>C rs750586210 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.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.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.1289G>A (p.Trp430Ter)
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.149-1G>A rs1554948445
NM_000352.6(ABCC8):c.160C>T (p.Gln54Ter)
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter) rs1591832463
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) rs137852674
NM_000352.6(ABCC8):c.1817+1G>C
NM_000352.6(ABCC8):c.1822C>T (p.Gln608Ter)
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1893del (p.Gln632fs) rs2133539303
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)
NM_000352.6(ABCC8):c.2116+1G>T rs1554924540
NM_000352.6(ABCC8):c.2117-1G>A rs797045207
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2222+1G>A rs1554923999
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter) rs751826777
NM_000352.6(ABCC8):c.2609C>T (p.Ala870Val)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2694+1G>A
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
NM_000352.6(ABCC8):c.2806C>T (p.Gln936Ter)
NM_000352.6(ABCC8):c.291-2A>G rs786204695
NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs) rs1954568421
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter) rs755259997
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3163-1G>A
NM_000352.6(ABCC8):c.3329+2T>C
NM_000352.6(ABCC8):c.3400-1G>A rs576684889
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter) rs1057516718
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs) rs1953899672
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs) rs2133400786
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs) rs758844607
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.4414G>A (p.Ala1472Thr)
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202
NM_000352.6(ABCC8):c.619_629del (p.Pro207fs)
NM_000352.6(ABCC8):c.61del (p.Val21fs) rs2133737961
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.805del (p.Ala269fs) rs1564976749
NM_000352.6(ABCC8):c.836_852dup (p.Ile287fs)
NM_000352.6(ABCC8):c.945del (p.Pro317fs)
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)

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