ClinVar Miner

List of variants in gene ABCC8 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 42
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HGVS dbSNP
NM_000352.5(ABCC8):c.-19A>G rs193922394
NM_000352.5(ABCC8):c.1176+2T>C rs750586210
NM_000352.5(ABCC8):c.1332+17G>C rs193922395
NM_000352.5(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.5(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.5(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.5(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.5(ABCC8):c.2117-12C>A rs193922398
NM_000352.5(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.5(ABCC8):c.2695-1G>C rs1057517420
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.3329+6C>T rs113873225
NM_000352.5(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000352.5(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.5(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.5(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.5(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779
NM_000352.5(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.5(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4120-19C>T rs1800853
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.5(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.5(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.5(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.5(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.5(ABCC8):c.4412-14C>T rs193922404
NM_000352.5(ABCC8):c.4451G>A (p.Gly1484Glu) rs193922405
NM_000352.5(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.5(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000352.5(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.5(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.5(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.5(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000352.5(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.5(ABCC8):c.892C>T (p.Arg298Cys) rs144705160
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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