ClinVar Miner

List of variants reported as likely pathogenic for Werner syndrome

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ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000553.6(WRN):c.724+515A>G rs191078968 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.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3819+1G>A rs748618811 0.00002
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000553.6(WRN):c.1431+2T>C rs1455462438 0.00001
NM_000553.6(WRN):c.1576+1G>A rs2535924832 0.00001
NM_000553.6(WRN):c.1652+1G>A rs777096501 0.00001
NM_000553.6(WRN):c.1653-2A>T rs1434118877 0.00001
NM_000553.6(WRN):c.1829+5G>A rs751015040 0.00001
NM_000553.6(WRN):c.1898+2T>G rs772319506 0.00001
NM_000553.6(WRN):c.1899-2A>T rs1175230246 0.00001
NM_000553.6(WRN):c.209+5G>A rs754208761 0.00001
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly) rs761240520 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 0.00001
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter) rs1319491415 0.00001
NM_000553.6(WRN):c.3309+1G>A rs1281075870 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.3460-7T>A rs1334937558 0.00001
NM_000553.6(WRN):c.355+1G>T rs775196937 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.3820-2A>G rs759685032 0.00001
NM_000553.6(WRN):c.3983-1G>T rs752465293 0.00001
NM_000553.6(WRN):c.4191+1G>A rs1279354218 0.00001
NM_000553.6(WRN):c.504+1G>T rs1163988347 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.725-1G>A rs377215256 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
NM_000553.6(WRN):c.96+1G>T rs1258953831 0.00001
NM_000553.6(WRN):c.97-1G>A rs780988648 0.00001
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
NC_000008.10:g.(?_30941261)_(30947513_?)del
NC_000008.10:g.(?_30941261)_(30947629_?)del
NC_000008.10:g.(?_30966107)_(30974054_?)del
NC_000008.10:g.(?_30969285)_(30975255_?)del
NC_000008.10:g.(?_30977883)_(31003833_?)del
NC_000008.10:g.(?_30981889)_(30989970_?)del
NC_000008.10:g.(?_30989976)_(30998629_?)del
NC_000008.10:g.(?_31007847)_(31024756_?)del
NC_000008.10:g.(?_31012248)_(31013983_?)del
NC_000008.11:g.(?_31111605)_(31132516_?)del
NC_000008.11:g.(?_31150335)_(31167236_?)del
NC_000008.11:g.31059257_31099267del
NM_000553.6(WRN):c.1012_1018del (p.Val338fs) rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000553.6(WRN):c.111G>C (p.Lys37Asn) rs771433734
NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs) rs2535911171
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter) rs2535911235
NM_000553.6(WRN):c.1175del (p.Cys391_Leu392insTer) rs2535911241
NM_000553.6(WRN):c.1229dup (p.Glu411fs) rs1563339062
NM_000553.6(WRN):c.1270-1G>A
NM_000553.6(WRN):c.1283del (p.Asn428fs)
NM_000553.6(WRN):c.1350+1G>A rs752202315
NM_000553.6(WRN):c.1350+1G>C rs752202315
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1351-1_1351delinsTT rs1813480415
NM_000553.6(WRN):c.1351-2A>G rs1563341296
NM_000553.6(WRN):c.1362del (p.Asn455fs) rs2535919253
NM_000553.6(WRN):c.1372G>T (p.Glu458Ter) rs2130140321
NM_000553.6(WRN):c.1432-2A>G rs1389423879
NM_000553.6(WRN):c.1432-2A>T rs1389423879
NM_000553.6(WRN):c.1432-2_1433del rs2535923881
NM_000553.6(WRN):c.1511del (p.Pro504fs) rs2535924290
NM_000553.6(WRN):c.1519G>T (p.Glu507Ter) rs1408863821
NM_000553.6(WRN):c.1576+1G>T rs2535924832
NM_000553.6(WRN):c.1576+1dup rs2130157703
NM_000553.6(WRN):c.1577-2A>G rs2535926992
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.1628dup (p.Tyr543Ter) rs2535927271
NM_000553.6(WRN):c.1653-2A>G rs1434118877
NM_000553.6(WRN):c.1657C>T (p.Gln553Ter) rs2130170949
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1689_1695del (p.Arg564fs) rs2535930302
NM_000553.6(WRN):c.1720+1G>C rs2535930484
NM_000553.6(WRN):c.1720+1G>T rs2535930484
NM_000553.6(WRN):c.1720+5G>A rs1813707238
NM_000553.6(WRN):c.1721-1G>A rs2535931386
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs) rs1585440764
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter) rs1813725009
NM_000553.6(WRN):c.1829+2T>C rs2535931905
NM_000553.6(WRN):c.1867_1868del (p.Gln623fs) rs2535934098
NM_000553.6(WRN):c.1871C>A (p.Ser624Ter) rs2130178752
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter) rs1813759748
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1981+1G>A rs1814007969
NM_000553.6(WRN):c.1981+1G>C rs1814007969
NM_000553.6(WRN):c.1982-2A>G rs1563351045
NM_000553.6(WRN):c.1993dup (p.Ile665fs) rs1814195192
NM_000553.6(WRN):c.2017dup (p.Ile673fs) rs1814197375
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer) rs2130229490
NM_000553.6(WRN):c.2040del (p.Phe680fs) rs2535950915
NM_000553.6(WRN):c.2088+1G>T rs2535951148
NM_000553.6(WRN):c.2089-1G>C rs2130282582
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.209+2_209+7delinsAA rs2487270254
NM_000553.6(WRN):c.2118_2119del (p.Ser707fs) rs762855622
NM_000553.6(WRN):c.2164_2171del (p.Asn722fs) rs2535968881
NM_000553.6(WRN):c.2245_2448+1213del
NM_000553.6(WRN):c.2273+1G>A rs2130284894
NM_000553.6(WRN):c.2273+2T>C rs2535969504
NM_000553.6(WRN):c.2290G>T (p.Glu764Ter) rs2535978167
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.230dup (p.Asp77fs) rs2535880725
NM_000553.6(WRN):c.2345del (p.Gly782fs) rs1585478303
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2448+1_2448+2insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGAAATTCAGG rs2130306240
NM_000553.6(WRN):c.2449-2A>C rs1585483030
NM_000553.6(WRN):c.2449-3_2449-2del rs2535986164
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.254_258dup (p.Pro87fs) rs2535880796
NM_000553.6(WRN):c.2624T>G (p.Leu875Ter) rs2535986999
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2731C>T (p.Gln911Ter) rs2535995120
NM_000553.6(WRN):c.2732+1G>A rs1047229701
NM_000553.6(WRN):c.2732+1G>C rs1047229701
NM_000553.6(WRN):c.2732+1G>T
NM_000553.6(WRN):c.2733-1G>A rs754056304
NM_000553.6(WRN):c.2733-1_2733del rs1801859348
NM_000553.6(WRN):c.2826-1G>C rs756880457
NM_000553.6(WRN):c.2856dup (p.Glu953fs) rs2536012100
NM_000553.6(WRN):c.2872del (p.Asp958fs) rs2536012185
NM_000553.6(WRN):c.2922_2968-316del
NM_000553.6(WRN):c.2932G>T (p.Gly978Ter)
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.2967+1G>A rs1474054365
NM_000553.6(WRN):c.2967+2T>C
NM_000553.6(WRN):c.2968-1G>A rs1300106191
NM_000553.6(WRN):c.2968-1G>C rs1300106191
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) rs1563376347
NM_000553.6(WRN):c.3138+2T>G
NM_000553.6(WRN):c.3233+1G>C rs1563376793
NM_000553.6(WRN):c.3234-1G>A rs866300270
NM_000553.6(WRN):c.3234-2A>C rs1554533006
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3260_3261del (p.Lys1087fs)
NM_000553.6(WRN):c.3309+1G>T rs1281075870
NM_000553.6(WRN):c.3309+2T>G rs2536033601
NM_000553.6(WRN):c.3319del (p.Glu1107fs) rs2536035612
NM_000553.6(WRN):c.3381_3383+76del rs1585517902
NM_000553.6(WRN):c.3382del (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3383+1G>A rs1413656527
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3459+1G>A rs1241888415
NM_000553.6(WRN):c.3459+2T>G rs2130439413
NM_000553.6(WRN):c.3460-1G>C rs1802899166
NM_000553.6(WRN):c.3460-2A>G rs281865159
NM_000553.6(WRN):c.34C>T (p.Gln12Ter) rs2130000832
NM_000553.6(WRN):c.3511del (p.Met1171fs) rs2536043142
NM_000553.6(WRN):c.356-2A>G rs780068269
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3637del (p.Ala1213fs) rs2536049676
NM_000553.6(WRN):c.3670C>T (p.Gln1224Ter) rs1803078013
NM_000553.6(WRN):c.3687+2T>C rs2536049982
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3700del (p.Ser1234fs)
NM_000553.6(WRN):c.3711del (p.Lys1237fs) rs1563385391
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.3820-1G>A rs1803425342
NM_000553.6(WRN):c.3820-2A>C rs759685032
NM_000553.6(WRN):c.3892_3893dup (p.Cys1299fs)
NM_000553.6(WRN):c.3972del (p.Val1325fs) rs1377977559
NM_000553.6(WRN):c.3982+1G>A rs1381370500
NM_000553.6(WRN):c.3982+1G>C rs1381370500
NM_000553.6(WRN):c.3982+1G>T rs1381370500
NM_000553.6(WRN):c.3983-2A>G rs2536080997
NM_000553.6(WRN):c.39_40dup (p.Lys14fs) rs2487266223
NM_000553.6(WRN):c.4109del (p.Asn1370fs) rs748089844
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter) rs774007667
NM_000553.6(WRN):c.4117A>T (p.Arg1373Ter) rs2130515044
NM_000553.6(WRN):c.464T>A (p.Leu155Ter) rs1585409238
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.504+1G>A rs1163988347
NM_000553.6(WRN):c.505-1G>A rs1415757819
NM_000553.6(WRN):c.505-2A>G rs2130048793
NM_000553.6(WRN):c.539_543del (p.Leu180fs) rs2535887104
NM_000553.6(WRN):c.554T>A (p.Leu185Ter) rs1563331288
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.599G>A (p.Trp200Ter) rs2535887383
NM_000553.6(WRN):c.654+2T>C rs2535887580
NM_000553.6(WRN):c.724+513A>G rs2535890221
NM_000553.6(WRN):c.724G>C (p.Glu242Gln) rs769959338
NM_000553.6(WRN):c.724_724+3del rs1554519449
NM_000553.6(WRN):c.725-1G>C rs377215256
NM_000553.6(WRN):c.725-2A>C
NM_000553.6(WRN):c.725-2A>G rs2535901752
NM_000553.6(WRN):c.838del (p.Arg280fs) rs2535902178
NM_000553.6(WRN):c.839+1G>A rs2130095451
NM_000553.6(WRN):c.840-1G>C rs1395775047
NM_000553.6(WRN):c.840-2A>T rs2535909385
NM_000553.6(WRN):c.851_852insTA (p.Leu284fs)
NM_000553.6(WRN):c.859del (p.Asp287fs) rs1585427471
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584
NM_000553.6(WRN):c.96+1G>A rs1258953831
NM_000553.6(WRN):c.96+1del rs755891046
NM_000553.6(WRN):c.968C>G (p.Ser323Ter) rs369277330
NM_000553.6(WRN):c.985C>T (p.Gln329Ter) rs1813285283

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