ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 6 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 319
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239 0.00051
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr) rs779228581 0.00022
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396 0.00012
NM_000046.5(ARSB):c.240G>A (p.Val80=) rs368338486 0.00010
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000046.5(ARSB):c.1122C>T (p.Phe374=) rs149886659 0.00009
NM_000046.5(ARSB):c.312+8G>C rs774555967 0.00009
NM_000046.5(ARSB):c.1152C>T (p.Ser384=) rs747829428 0.00008
NM_000046.5(ARSB):c.918G>A (p.Leu306=) rs755631948 0.00008
NM_000046.5(ARSB):c.1155A>G (p.Pro385=) rs778672342 0.00006
NM_000046.5(ARSB):c.1336+7del rs748129076 0.00005
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021 0.00005
NM_000046.5(ARSB):c.658A>G (p.Ile220Val) rs202130413 0.00005
NM_000046.5(ARSB):c.105G>A (p.Pro35=) rs1423589060 0.00004
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531 0.00004
NM_000046.5(ARSB):c.1142+18T>G rs758055045 0.00004
NM_000046.5(ARSB):c.1142+9A>C rs756793742 0.00004
NM_000046.5(ARSB):c.1440C>T (p.Asp480=) rs556943300 0.00004
NM_000046.5(ARSB):c.261G>A (p.Thr87=) rs756411069 0.00004
NM_000046.5(ARSB):c.384C>G (p.Leu128=) rs747605575 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000046.5(ARSB):c.690+14C>T rs757236770 0.00004
NM_000046.5(ARSB):c.879G>A (p.Thr293=) rs755579897 0.00004
NM_000046.5(ARSB):c.975C>T (p.Gly325=) rs75766476 0.00004
NM_000046.5(ARSB):c.129G>A (p.Arg43=) rs761491971 0.00003
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908 0.00003
NM_000046.5(ARSB):c.313-14T>A rs764757378 0.00003
NM_000046.5(ARSB):c.501A>G (p.Gly167=) rs774949257 0.00003
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271 0.00003
NM_000046.5(ARSB):c.960C>T (p.Ser320=) rs762614315 0.00003
NM_000046.5(ARSB):c.1125C>T (p.Asp375=) rs780432111 0.00002
NM_000046.5(ARSB):c.1296A>T (p.Ala432=) rs1471453713 0.00002
NM_000046.5(ARSB):c.1425T>C (p.Phe475=) rs778250810 0.00002
NM_000046.5(ARSB):c.1480A>G (p.Ile494Val) rs140415504 0.00002
NM_000046.5(ARSB):c.246G>A (p.Leu82=) rs1035210606 0.00002
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595 0.00002
NM_000046.5(ARSB):c.963G>A (p.Leu321=) rs932761237 0.00002
NM_000046.5(ARSB):c.1023C>T (p.Gly341=) rs769067669 0.00001
NM_000046.5(ARSB):c.1143-4C>A rs371644454 0.00001
NM_000046.5(ARSB):c.1143-5T>C rs777189032 0.00001
NM_000046.5(ARSB):c.117C>T (p.Ala39=) rs1191475106 0.00001
NM_000046.5(ARSB):c.1214-8C>A rs766561160 0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.1326G>A (p.Thr442=) rs537543103 0.00001
NM_000046.5(ARSB):c.1337-6T>C rs758986089 0.00001
NM_000046.5(ARSB):c.1338C>T (p.Gly446=) rs1165970318 0.00001
NM_000046.5(ARSB):c.1389C>T (p.Pro463=) rs774111900 0.00001
NM_000046.5(ARSB):c.144C>T (p.Val48=) rs1333402479 0.00001
NM_000046.5(ARSB):c.1482C>T (p.Ile494=) rs767372619 0.00001
NM_000046.5(ARSB):c.1488A>G (p.Thr496=) rs1233444230 0.00001
NM_000046.5(ARSB):c.1584G>A (p.Val528=) rs1028337311 0.00001
NM_000046.5(ARSB):c.163C>T (p.Leu55=) rs769716793 0.00001
NM_000046.5(ARSB):c.174C>T (p.Asn58=) rs1753117512 0.00001
NM_000046.5(ARSB):c.222G>C (p.Ala74=) rs1160145148 0.00001
NM_000046.5(ARSB):c.231C>T (p.Ala77=) rs542520705 0.00001
NM_000046.5(ARSB):c.264G>A (p.Gln88=) rs750947605 0.00001
NM_000046.5(ARSB):c.267G>C (p.Pro89=) rs573453966 0.00001
NM_000046.5(ARSB):c.276G>A (p.Thr92=) rs1474189742 0.00001
NM_000046.5(ARSB):c.279G>A (p.Pro93=) rs1264986788 0.00001
NM_000046.5(ARSB):c.312+10G>T rs901158566 0.00001
NM_000046.5(ARSB):c.312+7G>A rs1315861475 0.00001
NM_000046.5(ARSB):c.324T>C (p.Gly108=) rs1024390842 0.00001
NM_000046.5(ARSB):c.339A>T (p.Ile113=) rs762897195 0.00001
NM_000046.5(ARSB):c.385C>T (p.Leu129=) rs1421401801 0.00001
NM_000046.5(ARSB):c.429C>T (p.Val143=) rs775488835 0.00001
NM_000046.5(ARSB):c.499+10A>G rs779812696 0.00001
NM_000046.5(ARSB):c.500-7C>A rs1322794828 0.00001
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808 0.00001
NM_000046.5(ARSB):c.567C>G (p.Val189=) rs1396554870 0.00001
NM_000046.5(ARSB):c.597C>T (p.Gly199=) rs570750353 0.00001
NM_000046.5(ARSB):c.663C>T (p.Ala221=) rs534594272 0.00001
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810 0.00001
NM_000046.5(ARSB):c.690+11C>T rs1178359653 0.00001
NM_000046.5(ARSB):c.714C>G (p.Leu238=) rs1293017800 0.00001
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121 0.00001
NM_000046.5(ARSB):c.726T>C (p.His242=) rs1319944737 0.00001
NM_000046.5(ARSB):c.753C>T (p.Tyr251=) rs765711776 0.00001
NM_000046.5(ARSB):c.783G>A (p.Lys261=) rs575119903 0.00001
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013 0.00001
NM_000046.5(ARSB):c.898+7C>T rs573613390 0.00001
NM_000046.5(ARSB):c.91T>C (p.Leu31=) rs1215729608 0.00001
NM_000046.5(ARSB):c.984G>C (p.Gly328=) rs762523255 0.00001
NM_000046.5(ARSB):c.1005C>T (p.Pro335=)
NM_000046.5(ARSB):c.1011G>A (p.Leu337=) rs2112211547
NM_000046.5(ARSB):c.1026G>A (p.Val342=) rs2112211473
NM_000046.5(ARSB):c.102G>A (p.Pro34=) rs1466555919
NM_000046.5(ARSB):c.1047C>T (p.His349=)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1069C>G (p.Leu357Val) rs1310322781
NM_000046.5(ARSB):c.1071C>A (p.Leu357=)
NM_000046.5(ARSB):c.1071C>T (p.Leu357=) rs1216502750
NM_000046.5(ARSB):c.1074G>A (p.Val358=) rs2112211034
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
NM_000046.5(ARSB):c.1095C>A (p.Thr365=) rs2112210847
NM_000046.5(ARSB):c.111G>C (p.Ser37=) rs2112583225
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
NM_000046.5(ARSB):c.1142+10C>T
NM_000046.5(ARSB):c.1142+11C>T
NM_000046.5(ARSB):c.1142+12C>T
NM_000046.5(ARSB):c.1142+14G>A
NM_000046.5(ARSB):c.1142+7A>T rs1308281232
NM_000046.5(ARSB):c.1143-16A>C
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
NM_000046.5(ARSB):c.1170G>A (p.Glu390=)
NM_000046.5(ARSB):c.1173G>C (p.Leu391=) rs2111983867
NM_000046.5(ARSB):c.1174C>T (p.Leu392=) rs2111983845
NM_000046.5(ARSB):c.1203C>T (p.Asp401=) rs2112718154
NM_000046.5(ARSB):c.1206T>C (p.Ser402=)
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
NM_000046.5(ARSB):c.120G>T (p.Gly40=)
NM_000046.5(ARSB):c.1213+15A>G
NM_000046.5(ARSB):c.1213+18G>A
NM_000046.5(ARSB):c.1214-12A>G
NM_000046.5(ARSB):c.1214-12dup
NM_000046.5(ARSB):c.1214-14C>T
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.1214-17A>C
NM_000046.5(ARSB):c.1214-4C>T
NM_000046.5(ARSB):c.1214-5C>A rs1580962835
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1214-6T>G
NM_000046.5(ARSB):c.123C>A (p.Ala41=) rs886038216
NM_000046.5(ARSB):c.1254T>C (p.Ser418=) rs1362185630
NM_000046.5(ARSB):c.1272C>A (p.Ala424=) rs2112619347
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
NM_000046.5(ARSB):c.1305T>C (p.His435=)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=) rs753899382
NM_000046.5(ARSB):c.1320C>T (p.Leu440=)
NM_000046.5(ARSB):c.1326G>T (p.Thr442=) rs537543103
NM_000046.5(ARSB):c.132G>T (p.Pro44=) rs749069139
NM_000046.5(ARSB):c.1336+12A>G
NM_000046.5(ARSB):c.1336+18G>A
NM_000046.5(ARSB):c.1336+8C>A
NM_000046.5(ARSB):c.1336+8C>T
NM_000046.5(ARSB):c.1337-14G>C
NM_000046.5(ARSB):c.1337-16T>C
NM_000046.5(ARSB):c.1337-19GTTTT[3] rs780397796
NM_000046.5(ARSB):c.1337-19_1337-18del
NM_000046.5(ARSB):c.1337-7T>C
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=) rs759008131
NM_000046.5(ARSB):c.1353C>T (p.Phe451=) rs2112617431
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
NM_000046.5(ARSB):c.135C>G (p.Pro45=) rs2112582844
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=) rs2112617369
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.141G>C (p.Leu47=)
NM_000046.5(ARSB):c.1422C>T (p.Leu474=)
NM_000046.5(ARSB):c.1428T>C (p.Asp476=)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=) rs2112617302
NM_000046.5(ARSB):c.147C>T (p.Phe49=)
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)
NM_000046.5(ARSB):c.1506A>G (p.Leu502=)
NM_000046.5(ARSB):c.150G>A (p.Leu50=) rs2112582698
NM_000046.5(ARSB):c.1530C>T (p.Val510=) rs2112617107
NM_000046.5(ARSB):c.1545T>G (p.Pro515=)
NM_000046.5(ARSB):c.1548A>C (p.Ala516=) rs1158401003
NM_000046.5(ARSB):c.1557C>T (p.Pro519=) rs1748890674
NM_000046.5(ARSB):c.1560C>T (p.Arg520=) rs750093168
NM_000046.5(ARSB):c.1575C>A (p.Ala525=) rs2112617015
NM_000046.5(ARSB):c.1578T>C (p.Thr526=) rs2112617006
NM_000046.5(ARSB):c.1581G>C (p.Gly527=)
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=) rs1313700683
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
NM_000046.5(ARSB):c.180C>A (p.Val60=)
NM_000046.5(ARSB):c.180C>T (p.Val60=)
NM_000046.5(ARSB):c.189C>T (p.His63=)
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=) rs1047766714
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
NM_000046.5(ARSB):c.195C>T (p.Ser65=) rs2112582289
NM_000046.5(ARSB):c.210G>A (p.Pro70=)
NM_000046.5(ARSB):c.21G>A (p.Ala7=) rs1266041134
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=) rs1160145148
NM_000046.5(ARSB):c.225G>A (p.Leu75=) rs1362656468
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
NM_000046.5(ARSB):c.246G>T (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
NM_000046.5(ARSB):c.267G>A (p.Pro89=) rs573453966
NM_000046.5(ARSB):c.282G>A (p.Ser94=) rs2112581145
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
NM_000046.5(ARSB):c.285G>A (p.Arg95=) rs763502806
NM_000046.5(ARSB):c.300T>C (p.Thr100=) rs1753094740
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
NM_000046.5(ARSB):c.312+11C>T
NM_000046.5(ARSB):c.312+12C>T
NM_000046.5(ARSB):c.312+14C>A rs1293997321
NM_000046.5(ARSB):c.312+14C>G
NM_000046.5(ARSB):c.312+14C>T
NM_000046.5(ARSB):c.312+14_312+18del
NM_000046.5(ARSB):c.312+14_312+22del rs1425725676
NM_000046.5(ARSB):c.312+15C>G
NM_000046.5(ARSB):c.312+16G>A
NM_000046.5(ARSB):c.312+17C>G
NM_000046.5(ARSB):c.312+18C>T
NM_000046.5(ARSB):c.312+19_312+36del rs762417834
NM_000046.5(ARSB):c.312+19_312+41del
NM_000046.5(ARSB):c.312+8G>A rs774555967
NM_000046.5(ARSB):c.312+8_312+16dup
NM_000046.5(ARSB):c.312+9C>A rs2112580691
NM_000046.5(ARSB):c.313-11A>G
NM_000046.5(ARSB):c.313-16T>C
NM_000046.5(ARSB):c.313-19T>G
NM_000046.5(ARSB):c.315C>T (p.Ile105=) rs2112530668
NM_000046.5(ARSB):c.321A>G (p.Thr107=) rs2112530622
NM_000046.5(ARSB):c.327A>G (p.Leu109=)
NM_000046.5(ARSB):c.336A>G (p.Gln112=)
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
NM_000046.5(ARSB):c.33A>G (p.Arg11=)
NM_000046.5(ARSB):c.351T>C (p.Cys117=) rs2112530435
NM_000046.5(ARSB):c.354G>A (p.Gln118=)
NM_000046.5(ARSB):c.357C>T (p.Pro119=)
NM_000046.5(ARSB):c.363T>C (p.Cys121=) rs2112530329
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
NM_000046.5(ARSB):c.387G>A (p.Leu129=) rs1752337674
NM_000046.5(ARSB):c.387G>C (p.Leu129=)
NM_000046.5(ARSB):c.390C>G (p.Pro130=)
NM_000046.5(ARSB):c.399A>G (p.Leu133=) rs778723643
NM_000046.5(ARSB):c.39C>T (p.Pro13=)
NM_000046.5(ARSB):c.417T>C (p.Thr139=)
NM_000046.5(ARSB):c.432A>G (p.Gly144=)
NM_000046.5(ARSB):c.474C>T (p.Thr158=) rs1042478077
NM_000046.5(ARSB):c.477C>T (p.Arg159=) rs966538858
NM_000046.5(ARSB):c.480A>G (p.Arg160=) rs2112529443
NM_000046.5(ARSB):c.48G>A (p.Arg16=)
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
NM_000046.5(ARSB):c.492C>T (p.Thr164=) rs2112529378
NM_000046.5(ARSB):c.499+13C>G
NM_000046.5(ARSB):c.499+13C>T
NM_000046.5(ARSB):c.499+15C>T
NM_000046.5(ARSB):c.499+16A>G
NM_000046.5(ARSB):c.499+16_499+17del
NM_000046.5(ARSB):c.499+7G>A rs1334103341
NM_000046.5(ARSB):c.500-10A>G rs2112514597
NM_000046.5(ARSB):c.500-10A>T
NM_000046.5(ARSB):c.500-11C>T
NM_000046.5(ARSB):c.500-17G>A rs372317070
NM_000046.5(ARSB):c.500-17G>T
NM_000046.5(ARSB):c.500-18C>T
NM_000046.5(ARSB):c.500-4G>A rs2112514576
NM_000046.5(ARSB):c.500-4G>T rs2112514576
NM_000046.5(ARSB):c.500-8T>A
NM_000046.5(ARSB):c.531C>G (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.531C>T (p.Ser177=) rs377234838
NM_000046.5(ARSB):c.540C>T (p.Arg180=)
NM_000046.5(ARSB):c.546A>G (p.Thr182=)
NM_000046.5(ARSB):c.559C>T (p.Leu187=)
NM_000046.5(ARSB):c.582T>G (p.Leu194=)
NM_000046.5(ARSB):c.60C>T (p.Leu20=) rs2112583734
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
NM_000046.5(ARSB):c.63C>G (p.Pro21=) rs1221636759
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
NM_000046.5(ARSB):c.654G>A (p.Arg218=) rs2112513773
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
NM_000046.5(ARSB):c.666C>T (p.Leu222=) rs1752122294
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.690+15T>C
NM_000046.5(ARSB):c.690+16A>C
NM_000046.5(ARSB):c.690+16A>G
NM_000046.5(ARSB):c.690+9T>C
NM_000046.5(ARSB):c.691-12C>T
NM_000046.5(ARSB):c.691-20T>C
NM_000046.5(ARSB):c.691-4C>T
NM_000046.5(ARSB):c.691-6T>C rs2112484612
NM_000046.5(ARSB):c.691-7T>C
NM_000046.5(ARSB):c.691-8C>T
NM_000046.5(ARSB):c.694C>T (p.Leu232=) rs1264190516
NM_000046.5(ARSB):c.69C>T (p.Val23=) rs765737800
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.762A>T (p.Pro254=) rs2112484023
NM_000046.5(ARSB):c.777A>G (p.Gln259=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=) rs2112483929
NM_000046.5(ARSB):c.813C>T (p.Ser271=)
NM_000046.5(ARSB):c.822T>C (p.Asp274=)
NM_000046.5(ARSB):c.837T>C (p.Asn279=) rs1751673041
NM_000046.5(ARSB):c.846A>G (p.Ala282=)
NM_000046.5(ARSB):c.85C>T (p.Leu29=)
NM_000046.5(ARSB):c.861T>C (p.Ser287=)
NM_000046.5(ARSB):c.898+10T>C
NM_000046.5(ARSB):c.898+14T>C
NM_000046.5(ARSB):c.898+9G>C
NM_000046.5(ARSB):c.899-10T>C
NM_000046.5(ARSB):c.899-16C>T
NM_000046.5(ARSB):c.899-17A>G
NM_000046.5(ARSB):c.899-4dup
NM_000046.5(ARSB):c.899-9G>A
NM_000046.5(ARSB):c.90G>A (p.Leu30=)
NM_000046.5(ARSB):c.921A>C (p.Ala307=) rs2112212439
NM_000046.5(ARSB):c.924G>C (p.Gly308=)
NM_000046.5(ARSB):c.942T>C (p.Leu314=) rs1748000092
NM_000046.5(ARSB):c.945A>G (p.Arg315=)
NM_000046.5(ARSB):c.94T>C (p.Leu32=) rs2112583408
NM_000046.5(ARSB):c.951A>G (p.Arg317=) rs1318270777
NM_000046.5(ARSB):c.954A>G (p.Lys318=) rs2112212040
NM_000046.5(ARSB):c.963G>T (p.Leu321=)
NM_000046.5(ARSB):c.979C>A (p.Arg327=) rs773492223
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
NM_000046.5(ARSB):c.9G>C (p.Pro3=) rs1289000597

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