ClinVar Miner

List of variants in gene ABCC6 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 185
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) rs63751325 0.00029
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) rs369074083 0.00010
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) rs201275608 0.00009
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784 0.00007
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992 0.00004
NM_001171.6(ABCC6):c.600+1G>A rs1187315015 0.00004
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146 0.00003
NM_001171.6(ABCC6):c.3634-3C>A rs72664212 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu) rs72653753 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494 0.00002
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.1868-5T>G rs72664207 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2390G>A (p.Gly797Glu) rs768570780 0.00001
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702 0.00001
NM_001171.6(ABCC6):c.2591-1G>T rs1131691865 0.00001
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467 0.00001
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter) rs1002088882 0.00001
NM_001171.6(ABCC6):c.3364del (p.Ser1122fs) rs72664232 0.00001
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys) rs63749807 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter) rs72653746 0.00001
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748 0.00001
NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter) rs1311228469 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly) rs780887287 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608 0.00001
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352 0.00001
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter) rs1474063386 0.00001
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) rs72650697 0.00001
NC_000016.9:g.(?_16271289)_(16286799_?)dup
NM_001171.5(ABCC6):c.1868-?_1943+?del
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg) rs72653758
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1092_1339-1949del
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter)
NM_001171.6(ABCC6):c.1179_1338+2del rs1555517253
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg) rs376518465
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1338+1G>T
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter) rs368017088
NM_001171.6(ABCC6):c.1519del (p.Glu507fs) rs1555514927
NM_001171.6(ABCC6):c.1575dup (p.Arg526fs) rs72664217
NM_001171.6(ABCC6):c.1635+1G>T rs1264741133
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs) rs1555514467
NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs) rs1555514439
NM_001171.6(ABCC6):c.177_181del (p.Arg60fs) rs1555523438
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val) rs72653776
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) rs74315110
NM_001171.6(ABCC6):c.179_195del (p.Arg60fs) rs1555523429
NM_001171.6(ABCC6):c.1850C>G (p.Ser617Ter) rs2047676193
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs) rs72664218
NM_001171.6(ABCC6):c.1892_1943+26del rs1555513581
NM_001171.6(ABCC6):c.1944-1G>C rs1438851867
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.1978del (p.Ala660fs) rs1555513222
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro) rs72653782
NM_001171.6(ABCC6):c.2071-1G>A rs2047513887
NM_001171.6(ABCC6):c.2071-2A>T
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs) rs1555513085
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro) rs72653785
NM_001171.6(ABCC6):c.220-1G>C rs72664203
NM_001171.6(ABCC6):c.2237_2238delinsGGTGCAGAGTTTG (p.Ile746fs) rs2152258579
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter) rs66616070
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.6(ABCC6):c.2294G>C (p.Arg765Pro)
NM_001171.6(ABCC6):c.2294G>T (p.Arg765Leu) rs67561842
NM_001171.6(ABCC6):c.2323del (p.Leu775fs) rs72664229
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2383del (p.Val795fs) rs1555512419
NM_001171.6(ABCC6):c.2416-1_2416del rs111113625
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter) rs72653703
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.6(ABCC6):c.280del (p.Ile94fs) rs1555522997
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter) rs72653704
NM_001171.6(ABCC6):c.2820_2821insC (p.Ala941fs) rs72664219
NM_001171.6(ABCC6):c.2836_2851del (p.Leu946fs) rs74315152
NM_001171.6(ABCC6):c.2836del (p.Leu946fs) rs2047000316
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) rs767359198
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) rs2152235595
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu) rs72657694
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter) rs60975032
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) rs371889155
NM_001171.6(ABCC6):c.333dup (p.Leu112fs) rs1555522983
NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del) rs72664231
NM_001171.6(ABCC6):c.3349T>C (p.Ser1117Pro)
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp) rs63750987
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter) rs72653743
NM_001171.6(ABCC6):c.3506+1G>A
NM_001171.6(ABCC6):c.3506+2T>C rs2152224232
NM_001171.6(ABCC6):c.3506+2_3506+5del rs72664211
NM_001171.6(ABCC6):c.3544dup (p.Leu1182fs) rs1555508630
NM_001171.6(ABCC6):c.36+1G>T rs1555523841
NM_001171.6(ABCC6):c.3633+1G>A rs1555508604
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs) rs779018991
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter) rs72653747
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter) rs879956688
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter) rs1555507925
NM_001171.6(ABCC6):c.3798del (p.Glu1266fs) rs72664234
NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer) rs1555507903
NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs) rs1555507893
NM_001171.6(ABCC6):c.3876_3882+1del rs1297171898
NM_001171.6(ABCC6):c.3883-2_3883-1del
NM_001171.6(ABCC6):c.3912del (p.Lys1305fs) rs72664236
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro) rs63751318
NM_001171.6(ABCC6):c.3941G>T (p.Arg1314Leu)
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.4015C>A (p.Arg1339Ser)
NM_001171.6(ABCC6):c.4033A>T (p.Ile1345Phe)
NM_001171.6(ABCC6):c.4060G>A (p.Gly1354Ser)
NM_001171.6(ABCC6):c.4070G>C (p.Arg1357Pro)
NM_001171.6(ABCC6):c.4070G>T (p.Arg1357Leu)
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) rs72664222
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)
NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs) rs74315109
NM_001171.6(ABCC6):c.4318del (p.Met1440fs) rs72664238
NM_001171.6(ABCC6):c.4335del (p.Ser1446fs) rs72664239
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter) rs1333662666
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter) rs72653751
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) rs1596578599
NM_001171.6(ABCC6):c.4434del (p.Glu1479fs) rs72664280
NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser) rs63750874
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter) rs1555523535
NM_001171.6(ABCC6):c.601-2A>G rs1555520991
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg) rs72653755
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter) rs1315925055
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs) rs1343632105
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter) rs763591743
NM_001171.6(ABCC6):c.890_905del (p.Arg297fs) rs2152283906
NM_001171.6(ABCC6):c.938dup (p.Thr315fs) rs72664216
NM_001171.6(ABCC6):c.960del (p.Ser321fs) rs72664226
NM_001171.6(ABCC6):c.962del (p.Ser321fs) rs1555518824
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001171.6(ABCC6):c.998+2del rs72664205

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.