ClinVar Miner

List of variants in gene ABCC8 studied for not provided

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Total variants: 81
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HGVS dbSNP
NM_000352.5(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.5(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.5(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.5(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383
NM_000352.5(ABCC8):c.152G>A (p.Trp51Ter)
NM_000352.5(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.5(ABCC8):c.1630+1G>T rs773306994
NM_000352.5(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.5(ABCC8):c.170A>G (p.Lys57Arg)
NM_000352.5(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373
NM_000352.5(ABCC8):c.1874C>T (p.Ala625Val)
NM_000352.5(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.5(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.5(ABCC8):c.2117-3C>T rs1799854
NM_000352.5(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000352.5(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.5(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.5(ABCC8):c.2539G>A (p.Ala847Thr)
NM_000352.5(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.5(ABCC8):c.2695-2A>T rs863225278
NM_000352.5(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.5(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.5(ABCC8):c.2820+17A>G rs2106865
NM_000352.5(ABCC8):c.291-2A>G rs786204695
NM_000352.5(ABCC8):c.291-3C>T rs764107333
NM_000352.5(ABCC8):c.2921-1G>A
NM_000352.5(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.5(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.5(ABCC8):c.3107G>A (p.Trp1036Ter)
NM_000352.5(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.5(ABCC8):c.3203C>T (p.Thr1068Met)
NM_000352.5(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131
NM_000352.5(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.5(ABCC8):c.3612C>T (p.Ala1204=) rs149861153
NM_000352.5(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.5(ABCC8):c.3753+2C>T
NM_000352.5(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.5(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930
NM_000352.5(ABCC8):c.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.5(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.5(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.5(ABCC8):c.4119+18A>G
NM_000352.5(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.5(ABCC8):c.4136G>A (p.Arg1379His)
NM_000352.5(ABCC8):c.4151_4152del (p.Lys1384fs) rs1554905145
NM_000352.5(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) rs387906408
NM_000352.5(ABCC8):c.4157C>T (p.Ser1386Phe) rs72559718
NM_000352.5(ABCC8):c.4174T>G (p.Phe1392Val) rs587783171
NM_000352.5(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.5(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.5(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.5(ABCC8):c.4308-2A>G rs886041391
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.5(ABCC8):c.4454_4455AG[1] (p.Arg1486fs) rs863225279
NM_000352.5(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.4545+13C>T rs78338172
NM_000352.5(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.5(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000352.5(ABCC8):c.496C>T (p.Gln166Ter)
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.5(ABCC8):c.579+14C>T rs2301703
NM_000352.5(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.5(ABCC8):c.647G>A (p.Arg216His)
NM_000352.5(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.5(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.5(ABCC8):c.742C>T (p.Arg248Ter)
NM_000352.5(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701
NM_000352.5(ABCC8):c.794G>A (p.Arg265Gln) rs757018137
NM_000352.5(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.5(ABCC8):c.928G>A (p.Asp310Asn)
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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