ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
NM_001287174.2(ABCC8):c.152G>A (p.Trp51Ter)
NM_001287174.2(ABCC8):c.1630+1G>T rs773306994
NM_001287174.2(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_001287174.2(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373
NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_001287174.2(ABCC8):c.2222+1G>T rs1554923999
NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.2(ABCC8):c.2698-2A>T rs863225278
NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.3110G>A (p.Trp1037Ter) rs755259997
NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) rs886041392
NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) rs139964066
NM_001287174.2(ABCC8):c.3992-9G>A rs151344623
NM_001287174.2(ABCC8):c.4135G>C (p.Gly1379Arg) rs925231098
NM_001287174.2(ABCC8):c.4154_4155del (p.Lys1385fs) rs1554905145
NM_001287174.2(ABCC8):c.4157_4159CCT[1] (p.Ser1387del) rs387906408
NM_001287174.2(ABCC8):c.4160C>T (p.Ser1387Phe) rs72559718
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624
NM_001287174.2(ABCC8):c.4177T>G (p.Phe1393Val) rs587783171
NM_001287174.2(ABCC8):c.4311-2A>G rs886041391
NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) rs72559715
NM_001287174.2(ABCC8):c.4457_4458AG[1] (p.Arg1487fs) rs863225279
NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) rs28936371
NM_001287174.2(ABCC8):c.4519G>A (p.Glu1507Lys) rs137852671
NM_001287174.2(ABCC8):c.4616G>A (p.Arg1539Gln) rs1564869850
NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro) rs72559713
NM_001287174.2(ABCC8):c.496C>T (p.Gln166Ter)
NM_001287174.2(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001287174.2(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_001287174.2(ABCC8):c.742C>T (p.Arg248Ter) rs72559730

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