ClinVar Miner

List of variants reported as uncertain significance for Werner syndrome by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) rs199923241 0.00019
NM_000553.6(WRN):c.514A>C (p.Thr172Pro) rs367991517 0.00010
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00005
NM_000553.6(WRN):c.2944C>T (p.Pro982Ser) rs756832663 0.00003
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000553.6(WRN):c.394G>A (p.Ala132Thr) rs951969651 0.00001
NM_000553.6(WRN):c.2557G>A (p.Gly853Ser) rs1554528396
NM_000553.6(WRN):c.3389T>C (p.Met1130Thr) rs774227681
NM_000553.6(WRN):c.407C>G (p.Ala136Gly)
NM_000553.6(WRN):c.4111A>C (p.Lys1371Gln)

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