ClinVar Miner

List of variants reported as likely pathogenic for Werner syndrome

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Total variants: 12
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HGVS dbSNP
NC_000008.11:g.(?_31150335)_(31167236_?)del
NM_000553.4(WRN):c.1898+2T>G rs772319506
NM_000553.5(WRN):c.1165del (p.Arg389Glufs) rs878854131
NM_000553.5(WRN):c.1351-2A>G
NM_000553.5(WRN):c.1652+1G>A rs777096501
NM_000553.5(WRN):c.210-1G>A rs758988621
NM_000553.5(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.5(WRN):c.3233+1G>C
NM_000553.5(WRN):c.3309+1G>A
NM_000553.5(WRN):c.3384-1G>A rs776963381
NM_000553.5(WRN):c.487_488del (p.Asp163Cysfs) rs797045118
NM_000553.5(WRN):c.724_724+3del rs1554519449

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