ClinVar Miner

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

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Gene type:
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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000352.6(ABCC8):c.2117-301T>C rs4148622 0.75337
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.1468-105A>G rs2073587 0.45483
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.412+77G>A rs10400389 0.44607
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.1011+87A>G rs886291 0.38440
NM_000352.6(ABCC8):c.823-105A>G rs886290 0.38348
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000352.6(ABCC8):c.579+254G>A rs4148609 0.33478
NM_000352.6(ABCC8):c.579+204G>C rs3815066 0.32281
NM_000352.6(ABCC8):c.412+262T>A rs2237968 0.31319
NM_000352.6(ABCC8):c.412+312A>C rs2237969 0.31148
NM_000352.6(ABCC8):c.3754-156C>T rs4148642 0.29693
NM_000352.6(ABCC8):c.3329+307C>T rs2077655 0.28977
NM_000352.6(ABCC8):c.3329+268G>C rs2077654 0.27248
NM_000352.6(ABCC8):c.823-106C>T rs886289 0.22723
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000352.6(ABCC8):c.2256-65G>A rs12293228 0.21257
NM_000352.6(ABCC8):c.4609-82G>A rs41282912 0.20727
NM_000352.6(ABCC8):c.4608+101T>G rs17846719 0.19011
NM_000352.6(ABCC8):c.3651-229A>G rs7927686 0.18814
NM_000352.6(ABCC8):c.1671+308G>A rs4148618 0.16559
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000352.6(ABCC8):c.822+92G>A rs2074317 0.14581
NM_000352.6(ABCC8):c.2820+67C>T rs4148634 0.14037
NM_000352.6(ABCC8):c.148+119C>T rs77889556 0.12683
NM_000352.6(ABCC8):c.3558-95C>T rs4757513 0.12132
NM_000352.6(ABCC8):c.1672-74G>A rs2074308 0.11501
NM_000352.6(ABCC8):c.1672-97A>C rs8192694 0.11268
NM_000352.6(ABCC8):c.3558-233T>A rs16934040 0.10045
NM_000352.6(ABCC8):c.823-107C>A rs76090207 0.08430
NM_000352.6(ABCC8):c.4119+254C>G rs12288315 0.08185
NM_000352.6(ABCC8):c.291-62G>T rs11024298 0.07952
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000352.6(ABCC8):c.1012-317A>G rs78970117 0.06659
NM_000352.6(ABCC8):c.4198+62G>A rs8192691 0.06520
NM_000352.6(ABCC8):c.4412-179C>T rs17846770 0.06299
NM_000352.6(ABCC8):c.3867+157C>T rs17846764 0.05919
NM_000352.6(ABCC8):c.412+208G>A rs76542475 0.05697
NM_000352.6(ABCC8):c.1333-1265A>G rs11821015 0.05039
NC_000011.10:g.17477214T>A rs36234280 0.04704
NM_000352.6(ABCC8):c.149-156T>C rs74607324 0.04704
NM_000352.6(ABCC8):c.291-243C>A rs59060762 0.04530
NM_000352.6(ABCC8):c.1332+309G>A rs113208965 0.04397
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_000352.6(ABCC8):c.2117-261G>A rs73423060 0.03394
NM_000352.6(ABCC8):c.2695-252C>A rs78483822 0.03260
NM_000352.6(ABCC8):c.1333-828C>A rs79296881 0.03004
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_000352.6(ABCC8):c.291-142C>T rs115955857 0.02573
NM_000352.6(ABCC8):c.148+308A>T rs115286421 0.01969
NM_000352.6(ABCC8):c.1011+223C>T rs113325502 0.01949
NM_000352.6(ABCC8):c.580-314T>C rs111866974 0.01943
NM_000352.6(ABCC8):c.413-318G>A rs111401304 0.01918
NM_000352.6(ABCC8):c.2116+145G>T rs78813404 0.01912
NM_000352.6(ABCC8):c.1012-147T>G rs76391488 0.01898
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000352.6(ABCC8):c.4119+18A>G rs75967811 0.01067
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000352.6(ABCC8):c.1332+28G>A rs1800850 0.00667
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00212
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000352.6(ABCC8):c.822+20C>T rs181998151 0.00136
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421 0.00115
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762 0.00009
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2222+12A>G rs534103042 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072 0.00004
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088 0.00003
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045 0.00003
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=) rs776975807 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.1011+17del
NM_000352.6(ABCC8):c.1333-1186T>G rs886292
NM_000352.6(ABCC8):c.1333-328G>A rs59138800
NM_000352.6(ABCC8):c.1817+266del rs370673339
NM_000352.6(ABCC8):c.1817+267C>A rs72866869
NM_000352.6(ABCC8):c.2556+192del rs3214159
NM_000352.6(ABCC8):c.2694+19del
NM_000352.6(ABCC8):c.2695-20G>A
NM_000352.6(ABCC8):c.2921-19G>A
NM_000352.6(ABCC8):c.3162+11C>T
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3557+118_3557+121del rs4148637
NM_000352.6(ABCC8):c.3753+269C>A rs17846760
NM_000352.6(ABCC8):c.412+239G>A rs60229062
NM_000352.6(ABCC8):c.4307+9del rs1564874257
NM_000352.6(ABCC8):c.4412-14del
NM_000352.6(ABCC8):c.4608+8del
NM_000352.6(ABCC8):c.4609-103del rs1799731
NM_000352.6(ABCC8):c.4609-16del

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