ClinVar Miner

List of variants in gene WRN reported as pathogenic

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Gene type:
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Total variants: 134
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HGVS dbSNP
NC_000008.10:g.(?_30998936)_(31015056_?)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.3690_3693delAGAC (p.Asp1231Serfs) rs606231162
NM_000553.4(WRN):c.[375A>T;403A>G]
NM_000553.6(WRN):c.1009_1013del (p.Glu337fs)
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577
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.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1228C>T (p.Gln410Ter)
NM_000553.6(WRN):c.1252del (p.Ala418fs)
NM_000553.6(WRN):c.1290_1293del (p.Asn430fs) rs1389340786
NM_000553.6(WRN):c.1301del (p.Thr434fs)
NM_000553.6(WRN):c.1472dup (p.His491fs)
NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.15dup (p.Leu6fs)
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1674_1677del (p.His558fs)
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter)
NM_000553.6(WRN):c.171C>G (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.171del (p.Ser56_Tyr57insTer)
NM_000553.6(WRN):c.1726G>T (p.Gly576Ter)
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.1828A>T (p.Lys610Ter)
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1920C>G (p.Tyr640Ter)
NM_000553.6(WRN):c.1993dup (p.Ile665fs)
NM_000553.6(WRN):c.2028G>A (p.Trp676Ter) rs1585455586
NM_000553.6(WRN):c.2031del (p.His678fs)
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2106dup (p.Thr703fs)
NM_000553.6(WRN):c.2107dup (p.Thr703fs) rs1554526707
NM_000553.6(WRN):c.2170C>T (p.Gln724Ter) rs1563357741
NM_000553.6(WRN):c.2177_2178dup (p.Cys727fs)
NM_000553.6(WRN):c.2179dup (p.Cys727fs) rs281865158
NM_000553.6(WRN):c.2194C>T (p.Arg732Ter) rs143916053
NM_000553.6(WRN):c.2221C>T (p.Arg741Ter) rs763089663
NM_000553.6(WRN):c.2242C>T (p.Gln748Ter)
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
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)
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.2551G>T (p.Glu851Ter)
NM_000553.6(WRN):c.2584del (p.Ser862fs)
NM_000553.6(WRN):c.2604G>A (p.Trp868Ter) rs1554528411
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029
NM_000553.6(WRN):c.2678T>G (p.Leu893Ter)
NM_000553.6(WRN):c.272del (p.Arg91fs)
NM_000553.6(WRN):c.2820del (p.Arg940fs)
NM_000553.6(WRN):c.2855C>G (p.Ser952Ter)
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter)
NM_000553.6(WRN):c.2894dup (p.Leu966fs)
NM_000553.6(WRN):c.2900dup (p.Leu967fs) rs1554530901
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs)
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.6(WRN):c.2974C>T (p.Gln992Ter)
NM_000553.6(WRN):c.2994T>A (p.Tyr998Ter) rs1563376347
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.3042G>A (p.Trp1014Ter) rs371720457
NM_000553.6(WRN):c.305T>A (p.Leu102Ter)
NM_000553.6(WRN):c.3102T>G (p.Tyr1034Ter) rs1563376526
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter)
NM_000553.6(WRN):c.3195del (p.Asn1066fs)
NM_000553.6(WRN):c.3238A>T (p.Lys1080Ter)
NM_000553.6(WRN):c.3244del (p.Val1082fs)
NM_000553.6(WRN):c.327T>A (p.Cys109Ter) rs371538747
NM_000553.6(WRN):c.3288del (p.Glu1097fs)
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
NM_000553.6(WRN):c.3308del (p.Lys1103fs)
NM_000553.6(WRN):c.3310-1_3369dup
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>T rs1413656527
NM_000553.6(WRN):c.3394C>T (p.Gln1132Ter) rs1585521874
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3460-2A>C rs281865159
NM_000553.6(WRN):c.3493C>T (p.Gln1165Ter) rs121908447
NM_000553.6(WRN):c.356-2A>C
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3676_3679del (p.Asn1226fs)
NM_000553.6(WRN):c.3682del (p.Val1228fs) rs1563382597
NM_000553.6(WRN):c.3686A>T (p.Gln1229Leu) rs369158322
NM_000553.6(WRN):c.3711del (p.Lys1237fs) rs1563385391
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
NM_000553.6(WRN):c.3769C>T (p.Gln1257Ter)
NM_000553.6(WRN):c.3851_3982+449del
NM_000553.6(WRN):c.3852_3853del (p.Met1285fs)
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446
NM_000553.6(WRN):c.3915dup (p.Ala1306fs) rs587776621
NM_000553.6(WRN):c.3937C>T (p.Gln1313Ter) rs1585536813
NM_000553.6(WRN):c.3961C>T (p.Arg1321Ter) rs1303126572
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.554T>G (p.Leu185Ter) rs1563331288
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.648dup (p.Ala217fs)
NM_000553.6(WRN):c.655-1G>A
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000553.6(WRN):c.724G>T (p.Glu242Ter)
NM_000553.6(WRN):c.754A>T (p.Lys252Ter)
NM_000553.6(WRN):c.755_758del (p.Lys252fs) rs1244318419
NM_000553.6(WRN):c.859del (p.Asp287fs) rs1585427471
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848
NM_000553.6(WRN):c.896dup (p.Ile300fs)
NM_000553.6(WRN):c.921_922del (p.Glu308fs)
NM_000553.6(WRN):c.928_929dup (p.Pro311fs)
NM_000553.6(WRN):c.944T>G (p.Leu315Ter)
NM_000553.6(WRN):c.961G>T (p.Glu321Ter) rs779012596
NM_000553.6(WRN):c.979G>T (p.Gly327Ter)
NM_000553.6(WRN):c.980_983dup (p.Gln329fs) rs1585427710
RECQL2, 1-BP DEL, NT1396

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