ClinVar Miner

List of variants reported as uncertain significance for atrioventricular septal defect 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala) rs904519303 0.00022
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala) rs146243018 0.00018
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr) rs142601402 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser) rs563978220 0.00010
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser) rs139750927 0.00007
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly) rs138641332 0.00006
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr) rs372228686 0.00006
NM_005257.6(GATA6):c.660C>T (p.Gly220=) rs1385756157 0.00006
NM_005257.6(GATA6):c.775G>A (p.Val259Ile) rs911752926 0.00005
NM_005257.6(GATA6):c.1302+3G>A rs896413516 0.00004
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly) rs761668180 0.00004
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu) rs201707559 0.00004
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) rs756406083 0.00004
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser) rs954640705 0.00003
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn) rs947813106 0.00003
NM_005257.6(GATA6):c.1223A>G (p.His408Arg) rs1205923643 0.00002
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg) rs529881815 0.00002
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser) rs1185679421 0.00002
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) rs1194141406 0.00002
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser) rs774639835 0.00002
NM_005257.6(GATA6):c.589A>C (p.Met197Leu) rs1245355073 0.00002
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp) rs1024878588 0.00002
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) rs1166309522 0.00002
NC_000018.10:g.22169190A>T rs916466917 0.00001
NM_005257.6(GATA6):c.1021G>A (p.Val341Met) rs1270889195 0.00001
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser) rs1408429022 0.00001
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) rs964471147 0.00001
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala) rs1293318805 0.00001
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val) rs1457725461 0.00001
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe) rs776255080 0.00001
NM_005257.6(GATA6):c.1114G>A (p.Val372Met) rs1243661585 0.00001
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) rs769310811 0.00001
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro) rs1446505680 0.00001
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys) rs375015752 0.00001
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr) rs1182565719 0.00001
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro) rs746906542 0.00001
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) rs541150137 0.00001
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser) rs1568011554 0.00001
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu) rs767156756 0.00001
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) rs749567667 0.00001
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) rs559705145 0.00001
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser) rs923229630 0.00001
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg) rs933199729 0.00001
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) rs779755261 0.00001
NM_005257.6(GATA6):c.269C>T (p.Ala90Val) rs1341980994 0.00001
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg) rs749200220 0.00001
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser) rs1245960637 0.00001
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro) rs1381339538 0.00001
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) rs2033048695 0.00001
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu) rs980861173 0.00001
NM_005257.6(GATA6):c.508G>A (p.Val170Met) rs1343278963 0.00001
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly) rs1030316600 0.00001
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr) rs897655941 0.00001
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) rs1428539753 0.00001
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln) rs1176964829 0.00001
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser) rs752129361 0.00001
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg) rs1375177355 0.00001
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly) rs1323110205 0.00001
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys) rs1409189846 0.00001
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) rs1488181197 0.00001
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg) rs1291923956 0.00001
NM_005257.6(GATA6):c.995A>G (p.His332Arg) rs1223505085 0.00001
NC_000018.9:g.(?_19383858)_(19780786_?)dup
NC_000018.9:g.(?_19780599)_(19780786_?)dup
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser) rs2033061691
NM_005257.6(GATA6):c.1019A>G (p.Tyr340Cys)
NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)
NM_005257.6(GATA6):c.1024G>A (p.Gly342Arg)
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg) rs1468414837
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu) rs1433160408
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu) rs1598734418
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) rs1462457750
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg) rs1369316608
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)
NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu)
NM_005257.6(GATA6):c.1089G>T (p.Gln363His) rs1253142325
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr)
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)
NM_005257.6(GATA6):c.1105C>G (p.Pro369Ala)
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg)
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe) rs922570984
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg)
NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla)
NM_005257.6(GATA6):c.1135+6G>A
NM_005257.6(GATA6):c.1135+6G>T
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro) rs1389738061
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly) rs1567995562
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)
NM_005257.6(GATA6):c.1195C>T (p.Pro399Ser)
NM_005257.6(GATA6):c.1196C>T (p.Pro399Leu)
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe) rs2033036579
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile)
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) rs2033130661
NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)
NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del) rs1201519482
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) rs2033131746
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu)
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) rs2033131897
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala) rs2143273972
NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln)
NM_005257.6(GATA6):c.131C>T (p.Ser44Phe)
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) rs2143300702
NM_005257.6(GATA6):c.1343A>C (p.His448Pro) rs1380534258
NM_005257.6(GATA6):c.1349C>T (p.Thr450Ile)
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) rs2033195426
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser) rs765926114
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)
NM_005257.6(GATA6):c.1483C>T (p.Pro495Ser)
NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn)
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly)
NM_005257.6(GATA6):c.1492A>G (p.Ile498Val)
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn) rs1598737982
NM_005257.6(GATA6):c.1515T>G (p.Ser505=) rs770405157
NM_005257.6(GATA6):c.1523G>A (p.Ser508Asn)
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser)
NM_005257.6(GATA6):c.1549A>G (p.Thr517Ala)
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe)
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro) rs541150137
NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu)
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser) rs1311659713
NM_005257.6(GATA6):c.1609A>G (p.Thr537Ala)
NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser)
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr) rs2143345732
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val)
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln) rs767156756
NM_005257.6(GATA6):c.1634T>A (p.Val545Glu)
NM_005257.6(GATA6):c.1634T>G (p.Val545Gly)
NM_005257.6(GATA6):c.1636A>G (p.Met546Val)
NM_005257.6(GATA6):c.1638G>T (p.Met546Ile)
NM_005257.6(GATA6):c.163G>A (p.Gly55Ser)
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp) rs564934973
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly) rs747690300
NM_005257.6(GATA6):c.1660A>C (p.Asn554His)
NM_005257.6(GATA6):c.166G>A (p.Gly56Ser)
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg) rs139750927
NM_005257.6(GATA6):c.1702C>T (p.Leu568Phe)
NM_005257.6(GATA6):c.1720C>G (p.Leu574Val)
NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser)
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly) rs924843423
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln) rs201707559
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala)
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val) rs774669486
NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla)
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val) rs2143346650
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) rs1431278250
NM_005257.6(GATA6):c.182G>A (p.Gly61Glu)
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile) rs2143274330
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn)
NM_005257.6(GATA6):c.196G>C (p.Asp66His) rs554577705
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala)
NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)
NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr)
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro) rs1253034411
NM_005257.6(GATA6):c.296T>C (p.Val99Ala)
NM_005257.6(GATA6):c.2T>A (p.Met1Lys)
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu) rs1207902692
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly)
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu) rs1598733637
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg)
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu)
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr) rs2143275441
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr) rs1245960637
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly)
NM_005257.6(GATA6):c.37C>T (p.Arg13Cys)
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr)
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp)
NM_005257.6(GATA6):c.405G>T (p.Lys135Asn)
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) rs2033047742
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly)
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) rs1403238515
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln) rs1403238515
NM_005257.6(GATA6):c.447G>C (p.Gln149His)
NM_005257.6(GATA6):c.454G>T (p.Ala152Ser)
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser) rs1354600110
NM_005257.6(GATA6):c.460C>G (p.Leu154Val) rs2143275968
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser)
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr) rs559922666
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) rs559922666
NM_005257.6(GATA6):c.490G>A (p.Gly164Ser)
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg) rs770251106
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) rs917494899
NM_005257.6(GATA6):c.511C>T (p.His171Tyr)
NM_005257.6(GATA6):c.518C>T (p.Ala173Val)
NM_005257.6(GATA6):c.524C>T (p.Ala175Val)
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) rs2033034160
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del)
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del) rs1198054146
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup) rs762101807
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly)
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg) rs1385341551
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)
NM_005257.6(GATA6):c.584G>C (p.Gly195Ala)
NM_005257.6(GATA6):c.589A>G (p.Met197Val) rs1245355073
NM_005257.6(GATA6):c.591G>A (p.Met197Ile)
NM_005257.6(GATA6):c.592C>A (p.Leu198Met) rs387906814
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr) rs2143276783
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg)
NM_005257.6(GATA6):c.637G>A (p.Ala213Thr)
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) rs1369843629
NM_005257.6(GATA6):c.646G>A (p.Ala216Thr)
NM_005257.6(GATA6):c.647C>G (p.Ala216Gly)
NM_005257.6(GATA6):c.655G>C (p.Ala219Pro)
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) rs2033054015
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr)
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu)
NM_005257.6(GATA6):c.670G>A (p.Gly224Ser)
NM_005257.6(GATA6):c.670G>T (p.Gly224Cys)
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe)
NM_005257.6(GATA6):c.682G>A (p.Ala228Thr)
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp) rs1420896186
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) rs1420896186
NM_005257.6(GATA6):c.698C>A (p.Pro233His) rs2143277046
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe)
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser) rs904551659
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg)
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro) rs2143277140
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser) rs1355067748
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del)
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup) rs1316111445
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly) rs2033055492
NM_005257.6(GATA6):c.740C>T (p.Ala247Val)
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu) rs1014382084
NM_005257.6(GATA6):c.749G>T (p.Gly250Val)
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr) rs1555628783
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr)
NM_005257.6(GATA6):c.76G>A (p.Ala26Thr)
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)
NM_005257.6(GATA6):c.782C>T (p.Ala261Val)
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys)
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys) rs2143277461
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr) rs2033057141
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg)
NM_005257.6(GATA6):c.812T>C (p.Met271Thr)
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) rs2033057411
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr) rs1555628811
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp) rs2143277600
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) rs2033057637
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala) rs2143277659
NM_005257.6(GATA6):c.844_876del (p.Tyr282_Gly292del)
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr)
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu) rs185325359
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) rs1268789855
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu) rs2143277784
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp)
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr) rs2033058388
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser)
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu) rs1185015412
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser)
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup) rs1188366255
NM_005257.6(GATA6):c.886G>T (p.Gly296Cys)
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser) rs2033058660
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu) rs2033058989
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser)
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys)
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys) rs780160108
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln) rs780160108
NM_005257.6(GATA6):c.923C>A (p.Pro308His)
NM_005257.6(GATA6):c.926A>G (p.Gln309Arg)
NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser)
NM_005257.6(GATA6):c.947C>G (p.Ala316Gly)
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)
NM_005257.6(GATA6):c.969CCA[12] (p.His333_Pro334insHisHis)
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del)
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del) rs562588574
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del) rs562588574
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr)
NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp)
NM_005257.6(GATA6):c.993C>G (p.His331Gln) rs2143278462

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