ClinVar Miner

List of variants in gene WRN reported as pathogenic for Werner syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196 0.00002
NM_000553.6(WRN):c.210-1G>A rs758988621 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000553.6(WRN):c.896dup (p.Ile300fs) rs757968518 0.00002
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter) rs751969803 0.00001
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) rs143916053 0.00001
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) rs763089663 0.00001
NM_000553.6(WRN):c.2551G>T (p.Glu851Ter) rs1428459485 0.00001
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter) rs1441659798 0.00001
NM_000553.6(WRN):c.2952del (p.Leu984fs) rs1455560468 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter) rs1319491415 0.00001
NM_000553.6(WRN):c.3383+1G>T rs1413656527 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.3460-1G>A rs1802899166 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) rs1303126572 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
NM_000553.6(WRN):c.961G>T (p.Glu321Ter) rs779012596 0.00001
L76937.1:c.3711del rs1563385391
NC_000008.10:g.(30958472_30969130)_(30982517_30989880)del
NC_000008.10:g.(?_30915958)_(31030624_?)del
NC_000008.10:g.(?_30915964)_(30916791_?)del
NC_000008.10:g.(?_30915964)_(31030618_?)del
NC_000008.10:g.(?_30916659)_(30916791_?)del
NC_000008.10:g.(?_30921795)_(30925853_?)del
NC_000008.10:g.(?_30925764)_(30925853_?)del
NC_000008.10:g.(?_30941205)_(30969325_?)del
NC_000008.10:g.(?_30958355)_(30958481_?)del
NC_000008.10:g.(?_30958355)_(30982526_?)del
NC_000008.10:g.(?_30989871)_(30990032_?)del
NC_000008.10:g.(?_30998936)_(31015056_?)del
NC_000008.10:g.(?_31001056)_(31001149_?)del
NC_000008.10:g.(?_31001056)_(31030618_?)del
NC_000008.10:g.(?_31007847)_(31015056_?)del
NC_000008.10:g.(?_31014911)_31015491del
NC_000008.11:g.(?_31058438)_(31059275_?)del
NC_000008.11:g.(?_31058448)_(31111809_?)del
NC_000008.11:g.(?_31059147)_(31059271_?)del
NC_000008.11:g.(?_31076163)_(31076297_?)del
NC_000008.11:g.(?_31108591)_(31125010_?)del
NC_000008.11:g.(?_31150341)_(31157530_?)del
NM_000553.4(WRN):c.[375A>T;403A>G]
NM_000553.6(WRN):c.1003G>T (p.Glu335Ter)
NM_000553.6(WRN):c.1009_1013del (p.Glu337fs) rs2130118890
NM_000553.6(WRN):c.1012_1018del (p.Val338fs) rs2130118911
NM_000553.6(WRN):c.1016_1017insTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACATGAAGTTTT (p.Leu339delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyPheThrValLeuAlaGlyMetValSerIleSerTer) rs2130118800
NM_000553.6(WRN):c.1054dup (p.Asp352fs) rs2130119420
NM_000553.6(WRN):c.1098dup (p.Val367fs)
NM_000553.6(WRN):c.109A>T (p.Lys37Ter)
NM_000553.6(WRN):c.1111G>T (p.Glu371Ter) rs1563338837
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000553.6(WRN):c.1134del (p.Glu379fs)
NM_000553.6(WRN):c.1146del (p.Lys382fs)
NM_000553.6(WRN):c.1157del (p.Asn386fs) rs2130120515
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.1210del (p.Ile404fs) rs2130121219
NM_000553.6(WRN):c.1219C>T (p.Gln407Ter)
NM_000553.6(WRN):c.1225del (p.Ser409fs)
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter) rs1563339055
NM_000553.6(WRN):c.1229dup (p.Glu411fs) rs1563339062
NM_000553.6(WRN):c.1231G>T (p.Glu411Ter) rs2130121425
NM_000553.6(WRN):c.1252del (p.Ala418fs) rs2130121624
NM_000553.6(WRN):c.1290_1293del (p.Asn430fs) rs1389340786
NM_000553.6(WRN):c.1301del (p.Thr434fs) rs2130133359
NM_000553.6(WRN):c.1320del (p.Ser440fs)
NM_000553.6(WRN):c.1321del (p.Asp441fs)
NM_000553.6(WRN):c.1371_1374del (p.Asn457fs) rs2130140311
NM_000553.6(WRN):c.1390_1391del (p.Val464fs)
NM_000553.6(WRN):c.1426del (p.Lys477fs)
NM_000553.6(WRN):c.1442_1443insT (p.Leu482fs) rs2130155211
NM_000553.6(WRN):c.1462G>T (p.Glu488Ter) rs2130155645
NM_000553.6(WRN):c.1472dup (p.His491fs) rs2130155924
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
NM_000553.6(WRN):c.1486_1489del (p.Lys496fs)
NM_000553.6(WRN):c.1541del (p.Asn514fs)
NM_000553.6(WRN):c.1587G>A (p.Trp529Ter)
NM_000553.6(WRN):c.1593dup (p.Pro532fs)
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.15dup (p.Leu6fs) rs878854133
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter)
NM_000553.6(WRN):c.1629C>G (p.Tyr543Ter) rs2130164025
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1672_1673insGGAAT (p.His558fs)
NM_000553.6(WRN):c.1674_1677del (p.His558fs) rs749616545
NM_000553.6(WRN):c.1692_1693del (p.Arg565_Asp566insTer)
NM_000553.6(WRN):c.1695del (p.Asp566fs) rs2130171351
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.171del (p.Ser56_Tyr57insTer) rs1812391312
NM_000553.6(WRN):c.1720G>A (p.Gly574Arg)
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter) rs1396973081
NM_000553.6(WRN):c.1730A>T (p.Lys577Met) rs121908448
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)
NM_000553.6(WRN):c.1828A>T (p.Lys610Ter) rs1813725603
NM_000553.6(WRN):c.1862dup (p.Ala622fs) rs2130178691
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter) rs765756226
NM_000553.6(WRN):c.1940del (p.Cys646_Ser647insTer)
NM_000553.6(WRN):c.1993dup (p.Ile665fs) rs1814195192
NM_000553.6(WRN):c.2015_2016del (p.Cys672fs)
NM_000553.6(WRN):c.2023G>T (p.Glu675Ter)
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter) rs1585455586
NM_000553.6(WRN):c.2031del (p.His678fs) rs2130229354
NM_000553.6(WRN):c.2068del (p.Ser689_Leu690insTer) rs2130229956
NM_000553.6(WRN):c.2084_2085insCATTC (p.Met696fs)
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2106_2109dup (p.Ala704fs)
NM_000553.6(WRN):c.2106dup (p.Thr703fs) rs2130282820
NM_000553.6(WRN):c.2107dup (p.Thr703fs) rs1554526707
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly) rs761240520
NM_000553.6(WRN):c.214dup (p.Ser72fs)
NM_000553.6(WRN):c.2151C>A (p.Cys717Ter)
NM_000553.6(WRN):c.2153T>G (p.Leu718Ter)
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) rs1563357741
NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs) rs2130283793
NM_000553.6(WRN):c.2198del (p.Pro733fs)
NM_000553.6(WRN):c.221C>G (p.Ser74Ter)
NM_000553.6(WRN):c.2227del (p.Thr743fs) rs2130284286
NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)
NM_000553.6(WRN):c.2232del (p.Asn745fs) rs2130284409
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter) rs1801328287
NM_000553.6(WRN):c.2269del (p.Thr757fs)
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.22del (p.Thr8fs) rs1812358625
NM_000553.6(WRN):c.2310C>A (p.Tyr770Ter)
NM_000553.6(WRN):c.2332C>T (p.Gln778Ter) rs1554527775
NM_000553.6(WRN):c.2345del (p.Gly782fs) rs1585478303
NM_000553.6(WRN):c.2359_2361delinsTT (p.Asn788fs) rs1585478331
NM_000553.6(WRN):c.2359dup (p.Leu787fs) rs1801522729
NM_000553.6(WRN):c.2377del (p.Thr793fs)
NM_000553.6(WRN):c.238G>T (p.Gly80Ter)
NM_000553.6(WRN):c.2390del (p.Gly797fs)
NM_000553.6(WRN):c.2427del (p.Arg809fs) rs2130306151
NM_000553.6(WRN):c.2427dup (p.Phe810fs)
NM_000553.6(WRN):c.2432dup (p.Arg812fs)
NM_000553.6(WRN):c.2443del (p.Ile815fs)
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2488_2498del (p.Lys830fs)
NM_000553.6(WRN):c.2503C>T (p.Gln835Ter) rs2130322156
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2544T>A (p.Tyr848Ter) rs1585483312
NM_000553.6(WRN):c.2546_2547dup (p.Gln850fs) rs878854136
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.254G>A (p.Trp85Ter) rs2130032250
NM_000553.6(WRN):c.2555_2562del (p.Ile852fs)
NM_000553.6(WRN):c.255G>A (p.Trp85Ter) rs2130032264
NM_000553.6(WRN):c.2581C>T (p.Gln861Ter)
NM_000553.6(WRN):c.2584del (p.Ser862fs) rs1801678807
NM_000553.6(WRN):c.2594dup (p.His865fs)
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) rs1554528411
NM_000553.6(WRN):c.2613dup (p.Asp872fs)
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter) rs1801846606
NM_000553.6(WRN):c.272del (p.Arg91fs) rs1812611533
NM_000553.6(WRN):c.2741del (p.Leu914fs) rs2130344386
NM_000553.6(WRN):c.2772del (p.Ala925fs)
NM_000553.6(WRN):c.2820del (p.Arg940fs) rs2130344836
NM_000553.6(WRN):c.2858_2859del (p.Glu953fs)
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter) rs1585502089
NM_000553.6(WRN):c.2886del (p.Ala963fs) rs2130376964
NM_000553.6(WRN):c.2894dup (p.Leu966fs) rs2130377037
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter) rs1802623856
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) rs1563376347
NM_000553.6(WRN):c.3003_3004del (p.His1001fs)
NM_000553.6(WRN):c.3008del (p.Leu1003fs)
NM_000553.6(WRN):c.3008dup (p.Leu1003fs) rs1802626671
NM_000553.6(WRN):c.3020del (p.Gly1007fs)
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208
NM_000553.6(WRN):c.3037_3038del (p.Ser1013fs) rs759972548
NM_000553.6(WRN):c.3041G>A (p.Trp1014Ter)
NM_000553.6(WRN):c.3044G>A (p.Trp1015Ter)
NM_000553.6(WRN):c.305T>A (p.Leu102Ter) rs1812613241
NM_000553.6(WRN):c.3085del (p.Leu1028_Val1029insTer)
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) rs1563376526
NM_000553.6(WRN):c.3123C>A (p.Cys1041Ter) rs773664315
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter) rs2130417119
NM_000553.6(WRN):c.3190C>T (p.Gln1064Ter)
NM_000553.6(WRN):c.3195del (p.Asn1066fs) rs1802645000
NM_000553.6(WRN):c.31C>T (p.Gln11Ter) rs2130000774
NM_000553.6(WRN):c.3233+2T>C
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter) rs1288018118
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs) rs770947623
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.327T>A (p.Cys109Ter) rs371538747
NM_000553.6(WRN):c.3288del (p.Glu1097fs) rs2130422216
NM_000553.6(WRN):c.3308del (p.Lys1103fs) rs1802694719
NM_000553.6(WRN):c.3310-1_3369dup rs2130426690
NM_000553.6(WRN):c.3317dup (p.Leu1106fs)
NM_000553.6(WRN):c.3336T>G (p.Tyr1112Ter) rs1802745073
NM_000553.6(WRN):c.3382del (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3384-1G>T rs776963381
NM_000553.6(WRN):c.3384-2A>G
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter) rs1585521874
NM_000553.6(WRN):c.3403del (p.Glu1135fs)
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3424C>T (p.Gln1142Ter) rs1454512341
NM_000553.6(WRN):c.3442C>T (p.Gln1148Ter)
NM_000553.6(WRN):c.3451G>T (p.Glu1151Ter)
NM_000553.6(WRN):c.3455_3458dup (p.Gln1153fs)
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) rs121908447
NM_000553.6(WRN):c.3502dup (p.Ala1168fs)
NM_000553.6(WRN):c.3529_3530del (p.Ile1177fs)
NM_000553.6(WRN):c.356-2A>C rs780068269
NM_000553.6(WRN):c.3572+2T>C
NM_000553.6(WRN):c.3573-1_3579dup
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.360dup (p.Pro121fs)
NM_000553.6(WRN):c.3666del (p.Cys1223fs)
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs) rs1803078438
NM_000553.6(WRN):c.3682del (p.Val1228fs) rs1563382597
NM_000553.6(WRN):c.3685C>T (p.Gln1229Ter)
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) rs369158322
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3690_3693del rs606231162
NM_000553.6(WRN):c.3711del (p.Lys1237fs) rs1563385391
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3766del (p.Ser1256fs)
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter) rs2130470364
NM_000553.6(WRN):c.3769_3770del (p.Gln1257fs)
NM_000553.6(WRN):c.3785_3786del (p.Thr1262fs)
NM_000553.6(WRN):c.3851_3982+449del rs2130480213
NM_000553.6(WRN):c.3852_3853del (p.Met1285fs) rs1803426742
NM_000553.6(WRN):c.3897C>A (p.Cys1299Ter)
NM_000553.6(WRN):c.3915dup (p.Ala1306fs) rs587776621
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter) rs1585536813
NM_000553.6(WRN):c.3937del (p.Gln1313fs)
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4041dup (p.Ile1348fs) rs2130514507
NM_000553.6(WRN):c.4068dup (p.His1357fs)
NM_000553.6(WRN):c.4077dup (p.Asp1360Ter)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.434G>A (p.Trp145Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.474dup (p.Val159fs)
NM_000553.6(WRN):c.480_484del (p.Glu160fs) rs2130037261
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.502_503del (p.Lys168fs) rs776785728
NM_000553.6(WRN):c.509_510dup (p.Cys171fs) rs1554519254
NM_000553.6(WRN):c.515_516del (p.Thr172fs) rs1585411632
NM_000553.6(WRN):c.522_523dup (p.Trp175fs) rs1361270203
NM_000553.6(WRN):c.525del (p.Thr174_Trp175insTer) rs752830087
NM_000553.6(WRN):c.546del (p.Lys182fs)
NM_000553.6(WRN):c.554T>G (p.Leu185Ter) rs1563331288
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.571A>T (p.Lys191Ter) rs1812737120
NM_000553.6(WRN):c.583dup (p.Ile195fs)
NM_000553.6(WRN):c.600G>A (p.Trp200Ter) rs2130050166
NM_000553.6(WRN):c.648dup (p.Ala217fs) rs1812741645
NM_000553.6(WRN):c.655-1G>A rs2130056280
NM_000553.6(WRN):c.669_693del (p.Ile223fs)
NM_000553.6(WRN):c.724+1G>A rs1339616347
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000553.6(WRN):c.724G>T (p.Glu242Ter) rs769959338
NM_000553.6(WRN):c.754A>T (p.Lys252Ter) rs751986285
NM_000553.6(WRN):c.755_758del (p.Lys252fs) rs1244318419
NM_000553.6(WRN):c.767C>G (p.Ser256Ter)
NM_000553.6(WRN):c.806del (p.Pro269fs)
NM_000553.6(WRN):c.810dup (p.Ala271fs) rs1813089918
NM_000553.6(WRN):c.856A>T (p.Lys286Ter)
NM_000553.6(WRN):c.859del (p.Asp287fs) rs1585427471
NM_000553.6(WRN):c.867_874del (p.Glu290fs) rs752312589
NM_000553.6(WRN):c.886_890del (p.Arg296fs)
NM_000553.6(WRN):c.903dup (p.Ser302fs)
NM_000553.6(WRN):c.921_922del (p.Glu308fs) rs746445847
NM_000553.6(WRN):c.928_929dup (p.Pro311fs) rs2130117999
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584
NM_000553.6(WRN):c.945_949del (p.Leu315fs) rs2130118163
NM_000553.6(WRN):c.979G>T (p.Gly327Ter) rs1813283817
NM_000553.6(WRN):c.980_983dup (p.Gln329fs) rs1585427710
NM_000553.6(WRN):c.985C>T (p.Gln329Ter) rs1813285283
NM_000553.6(WRN):c.994C>T (p.Gln332Ter)
NM_000553.6(WRN):c.997_1000del (p.Ile333fs)

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