ClinVar Miner

List of variants studied for Noonan syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 353
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HGVS dbSNP
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_001354690.2(RAF1):c.*729_*732AACA[4] rs371820097
NM_001354690.2(RAF1):c.*729_*732AACA[6] rs371820097
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.-220C>T rs886051365
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dup rs730880340
NM_002755.3(MAP2K1):c.-405T>G rs886051363
NM_002755.3(MAP2K1):c.-408G>T rs536414539
NM_002755.3(MAP2K1):c.-448C>T rs73469977
NM_002755.3(MAP2K1):c.-456C>G rs886051362
NM_002755.3(MAP2K1):c.-461C>T rs886051361
NM_002755.3(MAP2K1):c.-85G>C rs112542693
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.*113T>G rs886057914
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*162T>C rs886057913
NM_002880.3(RAF1):c.*190G>A rs528863135
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*495C>T rs12808
NM_002880.3(RAF1):c.*556G>A rs187286358
NM_002880.3(RAF1):c.*606A>G rs556460176
NM_002880.3(RAF1):c.*627C>T rs879160471
NM_002880.3(RAF1):c.*640T>C rs759464247
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-110G>A rs886057917
NM_002880.3(RAF1):c.-139T>G rs886057918
NM_002880.3(RAF1):c.-146C>G rs886057919
NM_002880.3(RAF1):c.-181T>C rs886057920
NM_002880.3(RAF1):c.-204G>C rs547543588
NM_002880.3(RAF1):c.-267G>A rs116247741
NM_002880.3(RAF1):c.-27+7G>A rs886057916
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-337_-336delAG rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-21dup rs202103447
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1694+14G>A rs184144181
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-36dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1333_*1336dup rs35969619
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1606del rs34248802
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694del rs767903412
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2048_*2050dup rs761591990
NM_005633.3(SOS1):c.*2063_*2066dup rs886056011
NM_005633.3(SOS1):c.*2208dup rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2244_*2245dup rs3832123
NM_005633.3(SOS1):c.*2439del rs377250198
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dup rs886056007
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192del rs572584074
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3416_*3417del rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3566_*3568del rs886056005
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766del rs533720751
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_006049.4(SNAPC5):c.*169G>A rs150841154
NM_006049.4(SNAPC5):c.*176G>A rs371140798
NM_006049.4(SNAPC5):c.*249G>T rs781412352
NM_006049.4(SNAPC5):c.*961_*964AATA[1] rs397516788
NM_006049.4(SNAPC5):c.*967T>C rs368800650
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-555C>T rs8684
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_033360.4(KRAS):c.*1094G>T rs61763590
NM_033360.4(KRAS):c.*1183G>A rs61763591
NM_033360.4(KRAS):c.*1204A>G rs7960917
NM_033360.4(KRAS):c.*1326C>T rs574966178
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1622G>A rs886049194
NM_033360.4(KRAS):c.*1661T>C rs61764366
NM_033360.4(KRAS):c.*16T>C rs779184057
NM_033360.4(KRAS):c.*1708T>C rs7973450
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1752A>G rs763217196
NM_033360.4(KRAS):c.*1758_*1759del rs535478558
NM_033360.4(KRAS):c.*1759A>G rs4597149
NM_033360.4(KRAS):c.*1776C>T rs7973623
NM_033360.4(KRAS):c.*1777A>G rs886049193
NM_033360.4(KRAS):c.*180A>G rs886049198
NM_033360.4(KRAS):c.*1826C>G rs539213224
NM_033360.4(KRAS):c.*1831G>A rs531344668
NM_033360.4(KRAS):c.*1886T>C rs115968671
NM_033360.4(KRAS):c.*1893A>G rs886049192
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*2012T>C rs886049190
NM_033360.4(KRAS):c.*2305A>G rs61764368
NM_033360.4(KRAS):c.*2360A>G rs886049189
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*2446G>A rs886049187
NM_033360.4(KRAS):c.*2492C>T rs61764369
NM_033360.4(KRAS):c.*2577G>A rs886049186
NM_033360.4(KRAS):c.*2605G>A rs779071703
NM_033360.4(KRAS):c.*2626T>G rs61764370
NM_033360.4(KRAS):c.*2815C>T rs886049185
NM_033360.4(KRAS):c.*297C>T rs886049197
NM_033360.4(KRAS):c.*298T>G rs712
NM_033360.4(KRAS):c.*3009A>G rs13096
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*314C>T rs150334904
NM_033360.4(KRAS):c.*3269C>T rs886049183
NM_033360.4(KRAS):c.*3273G>A rs61764371
NM_033360.4(KRAS):c.*3323T>C rs886049182
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3498C>T rs1137188
NM_033360.4(KRAS):c.*3522T>A rs1137189
NM_033360.4(KRAS):c.*3575T>C rs749403585
NM_033360.4(KRAS):c.*3620C>T rs886049181
NM_033360.4(KRAS):c.*3623T>A rs61764372
NM_033360.4(KRAS):c.*3672C>G rs188922523
NM_033360.4(KRAS):c.*3766A>G rs529959450
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*3881A>C rs1137196
NM_033360.4(KRAS):c.*3907A>G rs8720
NM_033360.4(KRAS):c.*4022A>C rs12587
NM_033360.4(KRAS):c.*4036A>G rs886049179
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*4195G>A rs886049177
NM_033360.4(KRAS):c.*4200T>A rs12245
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_033360.4(KRAS):c.*4432A>G rs61764374
NM_033360.4(KRAS):c.*4549G>C rs545014897
NM_033360.4(KRAS):c.*4604G>A rs577486152
NM_033360.4(KRAS):c.*4619T>C rs768891600
NM_033360.4(KRAS):c.*4643G>A rs886049176
NM_033360.4(KRAS):c.*491C>G rs886049196
NM_033360.4(KRAS):c.*525T>C rs140080026
NM_033360.4(KRAS):c.*633T>C rs9266
NM_033360.4(KRAS):c.*659del rs756307694
NM_033360.4(KRAS):c.*671C>T rs566222739
NM_033360.4(KRAS):c.*73T>C rs1137282
NM_033360.4(KRAS):c.*886A>G rs886049195
NM_033360.4(KRAS):c.*945T>C rs61763589
NM_033360.4(KRAS):c.*986T>C rs559143985
NM_033360.4(KRAS):c.-128C>G rs886049199
NM_033360.4(KRAS):c.-160A>G rs727503111
NM_033360.4(KRAS):c.-176_-174CGG[4] rs886049200
NM_033360.4(KRAS):c.-180G>A rs886049201
NM_033360.4(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_033360.4(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_033360.4(KRAS):c.5-9G>A rs12313763

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