ClinVar Miner

Variants in gene WRN with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 37
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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.210-1G>A rs758988621 0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 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.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
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.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584

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