ClinVar Miner

List of variants reported as likely pathogenic by PXE International

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ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_001171.5(ABCC6):c.1064T>G (p.Leu355Arg) rs72653758
NM_001171.5(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.5(ABCC6):c.1179_1338+2del rs1555517253
NM_001171.5(ABCC6):c.1194C>G (p.Ser398Arg) rs376518465
NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460
NM_001171.5(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768
NM_001171.5(ABCC6):c.1484T>A (p.Leu495His) rs72653769
NM_001171.5(ABCC6):c.1519G>T (p.Glu507Ter) rs368017088
NM_001171.5(ABCC6):c.1519del (p.Glu507fs) rs1555514927
NM_001171.5(ABCC6):c.1575dup (p.Arg526fs) rs72664217
NM_001171.5(ABCC6):c.1635+1G>T rs1264741133
NM_001171.5(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.5(ABCC6):c.1781C>T (p.Ala594Val) rs72653776
NM_001171.5(ABCC6):c.179_195del (p.Arg60fs) rs1555523429
NM_001171.5(ABCC6):c.1857dup (p.Ser620fs) rs72664218
NM_001171.5(ABCC6):c.1868-?_1943+?del
NM_001171.5(ABCC6):c.1892_1943+26del rs1555513581
NM_001171.5(ABCC6):c.1944-1G>C rs1438851867
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.5(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.5(ABCC6):c.1978del (p.Ala660fs) rs1555513222
NM_001171.5(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.5(ABCC6):c.2030T>C (p.Leu677Pro) rs72653782
NM_001171.5(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784
NM_001171.5(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.5(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.5(ABCC6):c.2177T>C (p.Leu726Pro) rs72653785
NM_001171.5(ABCC6):c.220-1G>C rs72664203
NM_001171.5(ABCC6):c.2245C>T (p.Gln749Ter) rs66616070
NM_001171.5(ABCC6):c.2248-2_2248-1del rs111113624
NM_001171.5(ABCC6):c.2323del (p.Leu775fs) rs72664229
NM_001171.5(ABCC6):c.2383del (p.Val795fs) rs1555512419
NM_001171.5(ABCC6):c.2416-1_2416del rs111113625
NM_001171.5(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702
NM_001171.5(ABCC6):c.2524C>T (p.Gln842Ter) rs72653703
NM_001171.5(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467
NM_001171.5(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.5(ABCC6):c.280del (p.Ile94fs) rs1555522997
NM_001171.5(ABCC6):c.2814C>G (p.Tyr938Ter) rs72653704
NM_001171.5(ABCC6):c.2820_2821insC (p.Ala941fs) rs72664219
NM_001171.5(ABCC6):c.2836_2851del (p.Leu946fs) rs74315152
NM_001171.5(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705
NM_001171.5(ABCC6):c.3168C>A (p.Asp1056Glu) rs72657694
NM_001171.5(ABCC6):c.3207C>A (p.Tyr1069Ter) rs60975032
NM_001171.5(ABCC6):c.333G>A (p.Trp111Ter) rs1002088882
NM_001171.5(ABCC6):c.333dup (p.Leu112fs) rs1555522983
NM_001171.5(ABCC6):c.3343_3345del (p.Leu1115del) rs72664231
NM_001171.5(ABCC6):c.3362C>G (p.Ser1121Trp) rs63750987
NM_001171.5(ABCC6):c.3364del (p.Ser1122fs) rs72664232
NM_001171.5(ABCC6):c.3397G>T (p.Gly1133Cys) rs63749807
NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.5(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146
NM_001171.5(ABCC6):c.3427C>T (p.Gln1143Ter) rs72653743
NM_001171.5(ABCC6):c.3506+2_3506+5del rs72664211
NM_001171.5(ABCC6):c.3507-1G>A rs72664210
NM_001171.5(ABCC6):c.3544dup (p.Leu1182fs) rs1555508630
NM_001171.5(ABCC6):c.36+1G>T rs1555523841
NM_001171.5(ABCC6):c.3633+1G>A rs1555508604
NM_001171.5(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.5(ABCC6):c.3692_3693insTT (p.Ser1232fs) rs779018991
NM_001171.5(ABCC6):c.37-1G>A rs72657702
NM_001171.5(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402
NM_001171.5(ABCC6):c.3709C>T (p.Gln1237Ter) rs72653746
NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.5(ABCC6):c.3717T>G (p.Tyr1239Ter) rs72653747
NM_001171.5(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748
NM_001171.5(ABCC6):c.373G>T (p.Glu125Ter) rs879956688
NM_001171.5(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.5(ABCC6):c.3777G>A (p.Trp1259Ter) rs1555507925
NM_001171.5(ABCC6):c.3790C>T (p.Gln1264Ter) rs1311228469
NM_001171.5(ABCC6):c.3798del (p.Glu1266fs) rs72664234
NM_001171.5(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer) rs1555507903
NM_001171.5(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749
NM_001171.5(ABCC6):c.3866_3869dup (p.Ala1291fs) rs1555507893
NM_001171.5(ABCC6):c.386G>A (p.Gly129Glu) rs72653753
NM_001171.5(ABCC6):c.3876_3882+1del rs1297171898
NM_001171.5(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494
NM_001171.5(ABCC6):c.3912del (p.Lys1305fs) rs72664236
NM_001171.5(ABCC6):c.3919T>C (p.Ser1307Pro) rs63751318
NM_001171.5(ABCC6):c.3953C>G (p.Ala1318Gly) rs780887287
NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823
NM_001171.5(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750
NM_001171.5(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608
NM_001171.5(ABCC6):c.4209-2A>C rs1555506740
NM_001171.5(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) rs72664222
NM_001171.5(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.5(ABCC6):c.4306_4312del (p.Thr1436fs) rs74315109
NM_001171.5(ABCC6):c.4318del (p.Met1440fs) rs72664238
NM_001171.5(ABCC6):c.4335del (p.Ser1446fs) rs72664239
NM_001171.5(ABCC6):c.4341G>A (p.Trp1447Ter) rs1333662666
NM_001171.5(ABCC6):c.4403+1G>T rs1006994885
NM_001171.5(ABCC6):c.4420A>T (p.Lys1474Ter) rs72653751
NM_001171.5(ABCC6):c.4434del (p.Glu1479fs) rs72664280
NM_001171.5(ABCC6):c.4501G>A (p.Gly1501Ser) rs63750874
NM_001171.5(ABCC6):c.46C>T (p.Gln16Ter) rs1555523535
NM_001171.5(ABCC6):c.595C>T (p.Gln199Ter) rs1474063386
NM_001171.5(ABCC6):c.600+1G>A rs1187315015
NM_001171.5(ABCC6):c.601-2A>G rs1555520991
NM_001171.5(ABCC6):c.676G>A (p.Gly226Arg) rs72653755
NM_001171.5(ABCC6):c.681C>G (p.Tyr227Ter) rs1315925055
NM_001171.5(ABCC6):c.713C>A (p.Ser238Ter) rs763591743
NM_001171.5(ABCC6):c.724G>T (p.Glu242Ter) rs72650697
NM_001171.5(ABCC6):c.938dup (p.Thr315fs) rs72664216
NM_001171.5(ABCC6):c.960del (p.Ser321fs) rs72664226
NM_001171.5(ABCC6):c.962del (p.Ser321fs) rs1555518824
NM_001171.5(ABCC6):c.998+2_998+3del rs72664204
NM_001171.5(ABCC6):c.998+2del rs72664205
NM_001171.6(ABCC6):c.1092_1339-1949del
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs) rs1555514467
NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs) rs1555513085
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs) rs1343632105
NM_001351800.1(ABCC6):c.-197_-193del rs1555523438
NM_001351800.1(ABCC6):c.-269del rs72664223
NM_001351800.1(ABCC6):c.1392_1400delinsG (p.Asn464fs) rs1555514439

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