ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_000352.4(ABCC8):c.-190C>G rs1395224084
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000352.5(ABCC8):c.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.2117-1G>A rs797045207
NM_000352.5(ABCC8):c.3868-1G>A rs766431403
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.6(ABCC8):c.1333-1013A>G
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
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.331G>A (p.Gly111Arg) rs761749884
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter) rs1057516281
NM_000352.6(ABCC8):c.3989-9G>A rs151344623
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) rs387906408
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter) rs1057517199
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
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.742C>T (p.Arg248Ter) rs72559730
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994

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