ClinVar Miner

List of variants in gene OPTN studied for Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80844
NM_001008212.2(OPTN):c.626+24G>A rs11258211 0.03259
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys) rs523747 0.00679
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00491
NM_001008212.2(OPTN):c.779+20G>A rs79733653 0.00133
NM_001008212.2(OPTN):c.876G>A (p.Pro292=) rs151065414 0.00109
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_001008212.2(OPTN):c.1148+13A>G rs368654623 0.00061
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_001008212.2(OPTN):c.606G>A (p.Thr202=) rs143437860 0.00038
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001008212.2(OPTN):c.1243-11T>G rs371605680 0.00026
NM_001008212.2(OPTN):c.882+19C>T rs2277219 0.00015
NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) rs200114679 0.00015
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_001008212.2(OPTN):c.780-3C>T rs757862728 0.00013
NM_001008212.2(OPTN):c.779+10A>G rs200899194 0.00011
NM_001008212.2(OPTN):c.1401+21C>G rs553828705 0.00008
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00008
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg) rs373425395 0.00007
NM_001008212.2(OPTN):c.589C>A (p.His197Asn) rs759378585 0.00007
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) rs773095721 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr) rs557678153 0.00005
NM_001008212.2(OPTN):c.1713C>T (p.His571=) rs187326591 0.00005
NM_001008212.2(OPTN):c.408G>A (p.Ala136=) rs144561412 0.00005
NM_001008212.2(OPTN):c.553-17C>T rs201995280 0.00005
NM_001008212.2(OPTN):c.777A>T (p.Glu259Asp) rs532842754 0.00005
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_001008212.2(OPTN):c.490C>T (p.Leu164=) rs144640313 0.00004
NM_001008212.2(OPTN):c.597T>C (p.Pro199=) rs373699827 0.00004
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys) rs368244180 0.00004
NM_001008212.2(OPTN):c.883-9G>A rs372118360 0.00004
NM_001008212.2(OPTN):c.1269G>A (p.Leu423=) rs769491262 0.00003
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val) rs1350829993 0.00003
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu) rs1363384405 0.00003
NM_001008212.2(OPTN):c.1533-10G>A rs202006990 0.00003
NM_001008212.2(OPTN):c.1533-3C>T rs373981784 0.00003
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys) rs759605171 0.00003
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln) rs577097767 0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln) rs550042475 0.00003
NM_001008212.2(OPTN):c.448C>T (p.Leu150=) rs768270236 0.00003
NM_001008212.2(OPTN):c.675C>T (p.Tyr225=) rs745394420 0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_001008212.2(OPTN):c.882+20G>A rs758172702 0.00003
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg) rs577925671 0.00002
NM_001008212.2(OPTN):c.1324C>T (p.Leu442=) rs367641761 0.00002
NM_001008212.2(OPTN):c.1402-7C>T rs762343666 0.00002
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) rs771316696 0.00002
NM_001008212.2(OPTN):c.1612+17C>T rs767328211 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 0.00002
NM_001008212.2(OPTN):c.480C>T (p.Ile160=) rs146593599 0.00002
NM_001008212.2(OPTN):c.513C>T (p.Ser171=) rs369760173 0.00002
NM_001008212.2(OPTN):c.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.718C>T (p.Leu240=) rs372486382 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_001008212.2(OPTN):c.883-10C>T rs774128248 0.00002
NM_001008212.2(OPTN):c.883-17G>T rs561692004 0.00002
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820 0.00001
NM_001008212.2(OPTN):c.1038A>T (p.Ser346=) rs181131178 0.00001
NM_001008212.2(OPTN):c.1071T>C (p.Thr357=) rs2539067230 0.00001
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro) rs778506831 0.00001
NM_001008212.2(OPTN):c.1128G>A (p.Gln376=) rs780536013 0.00001
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu) rs2539067341 0.00001
NM_001008212.2(OPTN):c.1149-2A>G rs867368757 0.00001
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro) rs747263866 0.00001
NM_001008212.2(OPTN):c.1242+6C>T rs906152658 0.00001
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr) rs758895451 0.00001
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs) rs1206423781 0.00001
NM_001008212.2(OPTN):c.1320A>G (p.Lys440=) rs1459115466 0.00001
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00001
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr) rs772864480 0.00001
NM_001008212.2(OPTN):c.1372C>T (p.Leu458=) rs760304751 0.00001
NM_001008212.2(OPTN):c.1386C>T (p.Thr462=) rs765547990 0.00001
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) rs747481280 0.00001
NM_001008212.2(OPTN):c.1428T>C (p.His476=) rs767738080 0.00001
NM_001008212.2(OPTN):c.1443G>A (p.Ala481=) rs370287061 0.00001
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys) rs771943938 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr) rs774816761 0.00001
NM_001008212.2(OPTN):c.1532+14A>G rs1402791510 0.00001
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00001
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn) rs745350388 0.00001
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys) rs755873234 0.00001
NM_001008212.2(OPTN):c.1612+9C>T rs763985749 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr) rs1357375850 0.00001
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met) rs1258718059 0.00001
NM_001008212.2(OPTN):c.1722T>C (p.Asp574=) rs1470603982 0.00001
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr) rs896672755 0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) rs1269604352 0.00001
NM_001008212.2(OPTN):c.435C>T (p.Thr145=) rs1042488570 0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=) rs780011442 0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 0.00001
NM_001008212.2(OPTN):c.450dup (p.Gln151fs) rs1283443715 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter) rs1401721711 0.00001
NM_001008212.2(OPTN):c.528T>C (p.Asp176=) rs754892837 0.00001
NM_001008212.2(OPTN):c.582A>G (p.Glu194=) rs776613114 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 0.00001
NM_001008212.2(OPTN):c.626+18C>T rs754267730 0.00001
NM_001008212.2(OPTN):c.626+1G>A rs756957223 0.00001
NM_001008212.2(OPTN):c.626+4T>C rs1564360523 0.00001
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met) rs1026407971 0.00001
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys) rs369585614 0.00001
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn) rs778107336 0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu) rs1189662370 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn) rs768679465 0.00001
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter) rs1371904281 0.00001
NM_001008212.2(OPTN):c.729G>T (p.Gly243=) rs1313009234 0.00001
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006 0.00001
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys) rs1173642910 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001008212.2(OPTN):c.804A>C (p.Thr268=) rs2539062179 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.875C>T (p.Pro292Leu) rs762237396 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 0.00001
NM_001008212.2(OPTN):c.891C>T (p.Ser297=) rs200169099 0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe) rs1833407652 0.00001
NM_001008212.2(OPTN):c.924T>G (p.Ser308=) rs779638416 0.00001
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13152353)_(13162081_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.10:g.(?_13164365)_(13164507_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)dup
NC_000010.10:g.(?_13169725)_(13175601_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.(?_13118878)_(13119050_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile) rs1166767647
NM_001008212.2(OPTN):c.1077A>G (p.Lys359=)
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1103del (p.Met368fs) rs1564365123
NM_001008212.2(OPTN):c.1107A>G (p.Leu369=) rs149806984
NM_001008212.2(OPTN):c.1149-13T>A rs1833449149
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) rs751226367
NM_001008212.2(OPTN):c.1192C>G (p.Gln398Glu)
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter) rs1657737496
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer) rs764596973
NM_001008212.2(OPTN):c.1240G>T (p.Glu414Ter)
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1243-4T>G rs2539070735
NM_001008212.2(OPTN):c.1243T>G (p.Ser415Ala)
NM_001008212.2(OPTN):c.1253T>C (p.Val418Ala)
NM_001008212.2(OPTN):c.1254G>A (p.Val418=)
NM_001008212.2(OPTN):c.1287del (p.Lys429fs)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs) rs2539070896
NM_001008212.2(OPTN):c.1329A>G (p.Gln443=)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His) rs866078831
NM_001008212.2(OPTN):c.1339A>G (p.Met447Val)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1401+19C>T
NM_001008212.2(OPTN):c.1401+1G>A rs1370982012
NM_001008212.2(OPTN):c.1401+9C>T rs375398306
NM_001008212.2(OPTN):c.1402-11del rs753381280
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln) rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr) rs1564368754
NM_001008212.2(OPTN):c.1508A>G (p.Asn503Ser)
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys) rs769148305
NM_001008212.2(OPTN):c.1532+10AG[3] rs374302388
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter) rs780777015
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs) rs2539080525
NM_001008212.2(OPTN):c.1562A>G (p.His521Arg)
NM_001008212.2(OPTN):c.1568C>A (p.Ala523Glu) rs747569110
NM_001008212.2(OPTN):c.1568C>T (p.Ala523Val)
NM_001008212.2(OPTN):c.1578T>C (p.Ser526=)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
NM_001008212.2(OPTN):c.1603G>C (p.Val535Leu)
NM_001008212.2(OPTN):c.1612+17C>A rs767328211
NM_001008212.2(OPTN):c.1613-13T>C rs1833708819
NM_001008212.2(OPTN):c.1613-1G>A rs2539086992
NM_001008212.2(OPTN):c.1613-3C>T rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) rs967459877
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter) rs2539087061
NM_001008212.2(OPTN):c.1642C>A (p.Arg548=) rs767360238
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
NM_001008212.2(OPTN):c.1653G>A (p.Pro551=) rs563795803
NM_001008212.2(OPTN):c.1653G>T (p.Pro551=) rs563795803
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser) rs2539087117
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg) rs1357375850
NM_001008212.2(OPTN):c.1674T>C (p.Cys558=) rs1833710699
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu) rs754699044
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly) rs981878192
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe) rs1588456364
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) rs1275810602
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr) rs1564370960
NM_001008212.2(OPTN):c.370-13T>C rs1410187067
NM_001008212.2(OPTN):c.370-13T>G
NM_001008212.2(OPTN):c.370-1G>A rs2131488754
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn) rs142282480
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys) rs2539041511
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs) rs2539041527
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala) rs2539041552
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu) rs200863693
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser) rs2539041653
NM_001008212.2(OPTN):c.475G>C (p.Gly159Arg)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.523del (p.Glu175fs) rs771268520
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp) rs778593114
NM_001008212.2(OPTN):c.552+11G>C rs1015367767
NM_001008212.2(OPTN):c.553-12C>T rs2539051037
NM_001008212.2(OPTN):c.553-6_553-5delinsGT rs2539051058
NM_001008212.2(OPTN):c.560A>C (p.Glu187Ala)
NM_001008212.2(OPTN):c.568G>A (p.Gly190Arg)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln) rs2539051155
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg) rs2539051176
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser) rs1833208430
NM_001008212.2(OPTN):c.612A>G (p.Thr204=) rs1588441388
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala) rs960735645
NM_001008212.2(OPTN):c.617C>T (p.Ser206Phe)
NM_001008212.2(OPTN):c.621T>C (p.Thr207=)
NM_001008212.2(OPTN):c.626+14G>A
NM_001008212.2(OPTN):c.626+17T>A rs2539051300
NM_001008212.2(OPTN):c.627-16C>T rs769726736
NM_001008212.2(OPTN):c.627-7T>C
NM_001008212.2(OPTN):c.633G>A (p.Leu211=) rs761224831
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter) rs1328890259
NM_001008212.2(OPTN):c.666del (p.Lys223fs) rs2539056279
NM_001008212.2(OPTN):c.678C>T (p.Phe226=) rs560438634
NM_001008212.2(OPTN):c.759A>C (p.Ala253=) rs147991854
NM_001008212.2(OPTN):c.759A>G (p.Ala253=)
NM_001008212.2(OPTN):c.762C>T (p.Leu254=) rs1833282939
NM_001008212.2(OPTN):c.779+8A>G rs2539056539
NM_001008212.2(OPTN):c.780-1G>C rs759311192
NM_001008212.2(OPTN):c.780-2A>C rs768117011
NM_001008212.2(OPTN):c.822T>A (p.Ile274=) rs747912539
NM_001008212.2(OPTN):c.843C>T (p.Ser281=) rs1833370843
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+2_882+3del rs2539062305
NM_001008212.2(OPTN):c.882+5G>A rs766398912
NM_001008212.2(OPTN):c.883-10C>G
NM_001008212.2(OPTN):c.883-6T>C rs1588446686
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.898G>C (p.Glu300Gln)
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.934G>A (p.Glu312Lys)
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.950A>G (p.His317Arg) rs747365111
NM_001008212.2(OPTN):c.951T>A (p.His317Gln)
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg) rs2539065127
NM_001008212.2(OPTN):c.964= (p.Glu322=)
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg) rs2539065197
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925
NM_001008212.2(OPTN):c.998+18A>G rs1833410378
NM_001008212.2(OPTN):c.998+19T>C rs1833410442
NM_001008212.2(OPTN):c.999-16T>A
NM_001008212.2(OPTN):c.999-16T>C rs373405178
NM_001008212.2(OPTN):c.999-20G>A rs2539067046

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