ClinVar Miner

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

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Total variants: 29
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HGVS dbSNP
NM_000352.4(ABCC8):c.1634del (p.Phe545Serfs) rs1260178539
NM_000352.4(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.4(ABCC8):c.2222+1G>T rs1554923999
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.3107G>A (p.Trp1036Ter)
NM_000352.4(ABCC8):c.3130_3149del rs886041392
NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.4(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.4(ABCC8):c.4151_4152del (p.Lys1384Ilefs) rs1554905145
NM_000352.4(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718
NM_000352.4(ABCC8):c.4157_4159delCCT (p.Ser1386del) rs387906408
NM_000352.4(ABCC8):c.4174T>G (p.Phe1392Val) rs587783171
NM_000352.4(ABCC8):c.4308-2A>G rs886041391
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.4(ABCC8):c.4613G>A (p.Arg1538Gln)
NM_000352.4(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.742C>T (p.Arg248Ter)
NM_001287174.1(ABCC8):c.1732_1746dupGCCTCCCTCTCCCTC (p.Leu582_Phe583insAlaSerLeuSerLeu) rs757650373
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.1(ABCC8):c.2698-2A>T rs863225278
NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.1(ABCC8):c.3992-9G>A rs151344623
NM_001287174.1(ABCC8):c.4163_4165delTCT (p.Phe1388del) rs151344624
NM_001287174.1(ABCC8):c.4459_4460delAG (p.Arg1487Alafs) rs863225279
NM_001287174.1(ABCC8):c.4519G>A (p.Glu1507Lys) rs137852671
NM_001287174.1(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001287174.1(ABCC8):c.72C>A (p.Asn24Lys) rs771075821

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