ClinVar Miner

List of variants studied for Werner syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000553.6(WRN):c.1351-2A>G rs1563341296
NM_000553.6(WRN):c.1720+1G>C
NM_000553.6(WRN):c.3919G>A (p.Gly1307Ser) rs1563387347

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