ClinVar Miner

List of variants studied for Werner syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_000553.6(WRN):c.97-1G>A rs780988648 0.00001
NC_000008.10:g.(30958472_30969130)_(30982517_30989880)del
NC_000008.10:g.(31007972_31012139)_(31031278_?)del
NM_000553.6(WRN):c.1484T>G (p.Leu495Ter)
NM_000553.6(WRN):c.2103_2104del (p.Leu702fs) rs1383589957
NM_000553.6(WRN):c.2884C>T (p.Gln962Ter) rs1585502089
NM_000553.6(WRN):c.654+2T>C
NM_000553.6(WRN):c.96+1G>T

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