ClinVar Miner

List of variants in gene WRN reported as pathogenic

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Gene type:
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Total variants: 71
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HGVS dbSNP
NC_000008.10:g.(?_30916663)_(30916787_?)del
NC_000008.10:g.(?_31007857)_(31015046_?)del
NM_000553.4(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000553.4(WRN):c.15delA (p.Lys5Asnfs) rs878854133
NM_000553.4(WRN):c.1730A>T (p.Lys577Met) rs121908448
NM_000553.4(WRN):c.2089-3024A>G rs281865157
NM_000553.4(WRN):c.2103_2104delAC (p.Leu702Tyrfs) rs1383589957
NM_000553.4(WRN):c.2546_2547dupAT (p.Gln850Ilefs) rs878854136
NM_000553.4(WRN):c.2665C>T (p.Arg889Ter) rs774765029
NM_000553.4(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.4(WRN):c.2994T>A (p.Tyr998Ter) rs1563376347
NM_000553.4(WRN):c.3030_3033delAACA (p.Thr1011Argfs) rs748860208
NM_000553.4(WRN):c.3139-1G>C rs113993961
NM_000553.4(WRN):c.3460-2A>C rs281865159
NM_000553.4(WRN):c.3493C>T (p.Gln1165Ter) rs121908447
NM_000553.4(WRN):c.3590delA (p.Asn1197Thrfs) rs281865160
NM_000553.4(WRN):c.3686A>T (p.Gln1229Leu) rs369158322
NM_000553.4(WRN):c.3690_3693delAGAC (p.Asp1231Serfs) rs606231162
NM_000553.4(WRN):c.3711delA (p.Lys1237Asnfs) rs1563385391
NM_000553.4(WRN):c.3913C>T (p.Arg1305Ter) rs121908446
NM_000553.4(WRN):c.3961C>T (p.Arg1321Ter) rs1303126572
NM_000553.4(WRN):c.502_503delAA (p.Lys168Alafs) rs776785728
NM_000553.4(WRN):c.525delG (p.Trp175Terfs) rs752830087
NM_000553.4(WRN):c.673C>T (p.Arg225Ter) rs370324188
NM_000553.4(WRN):c.[375A>T;403A>G]
NM_000553.4:c.1290_1293del
NM_000553.4:c.1578delC rs780555196
NM_000553.4:c.171C>G
NM_000553.4:c.1908C>A
NM_000553.4:c.2028G>A
NM_000553.4:c.2359_2361delCTGinsTT
NM_000553.4:c.2544T>A
NM_000553.4:c.3042G>A
NM_000553.4:c.3394C>T
NM_000553.4:c.3937C>T
NM_000553.4:c.515_516delCA
NM_000553.4:c.961G>T
NM_000553.4:c.980_983dupGAGT
NM_000553.5(WRN):c.1111G>T (p.Glu371Ter) rs1563338837
NM_000553.5(WRN):c.1114_1115delGAinsC (p.Asp372Leufs) rs1563338855
NM_000553.5(WRN):c.1165del (p.Arg389Glufs) rs878854131
NM_000553.5(WRN):c.1744C>T (p.Gln582Ter)
NM_000553.5(WRN):c.2107dup (p.Thr703Asnfs) rs1554526707
NM_000553.5(WRN):c.2170C>T (p.Gln724Ter) rs1563357741
NM_000553.5(WRN):c.2179dup (p.Cys727Leufs) rs281865158
NM_000553.5(WRN):c.2194C>T (p.Arg732Ter) rs143916053
NM_000553.5(WRN):c.2221C>T (p.Arg741Ter) rs763089663
NM_000553.5(WRN):c.2332C>T (p.Gln778Ter) rs1554527775
NM_000553.5(WRN):c.2604G>A (p.Trp868Ter) rs1554528411
NM_000553.5(WRN):c.2900dup (p.Leu967Phefs) rs1554530901
NM_000553.5(WRN):c.3037_3038delAG (p.Ser1013Leufs) rs759972548
NM_000553.5(WRN):c.3102T>G (p.Tyr1034Ter) rs1563376526
NM_000553.5(WRN):c.327T>A (p.Cys109Ter) rs371538747
NM_000553.5(WRN):c.3382del (p.Ser1128Valfs) rs778872619
NM_000553.5(WRN):c.3382dup (p.Ser1128Lysfs) rs778872619
NM_000553.5(WRN):c.3408dup (p.Ala1137Serfs) rs1284409960
NM_000553.5(WRN):c.3682del (p.Val1228Phefs) rs1563382597
NM_000553.5(WRN):c.3915dup (p.Ala1306Serfs) rs587776621
NM_000553.5(WRN):c.509_510dup (p.Cys171Asnfs) rs1554519254
NM_000553.5(WRN):c.522_523dup (p.Trp175Serfs) rs1361270203
NM_000553.5(WRN):c.554T>G (p.Leu185Ter) rs1563331288
NM_000553.5(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.5(WRN):c.755_758del (p.Lys252Serfs) rs1244318419
NM_000553.5(WRN):c.88G>T (p.Glu30Ter) rs1198210848
NM_000553.6(WRN):c.1665del (p.Val556Terfs)
NM_000553.6(WRN):c.229dup (p.Asp77Glyfs) rs747587698
NM_000553.6(WRN):c.2345del (p.Gly782Valfs)
NM_000553.6(WRN):c.2503del (p.Gln835Lysfs)
NM_000553.6(WRN):c.3383+1G>T
NM_000553.6(WRN):c.859del (p.Asp287Ilefs)
RECQL2, 1-BP DEL, NT1396

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