ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for monogenic diabetes

Included ClinVar conditions (64):
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Gene type:
ClinVar version:
Total variants: 61
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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 0.00018
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00005
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile) rs771392416 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00003
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His) rs1272388614 0.00003
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) rs267606623 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.1792C>T (p.Arg598Ter) rs139328569 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2694+1G>A rs774574576 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 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.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met) rs769989185 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer) rs770664202 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
ABCC8, ARG1380HIS
NC_000011.10:g.17445123_17455212del
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) rs137852674
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1893del (p.Gln632fs) rs2133539303
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter) rs753296261
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.25G>T (p.Glu9Ter)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
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+2T>G
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
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.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.4283_4290del (p.Pro1428fs)
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.597_598dup (p.Thr200fs)
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000352.6(ABCC8):c.805del (p.Ala269fs) rs1564976749

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