ClinVar Miner

List of variants studied for Werner syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) rs750052448 0.00002
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208

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