ClinVar Miner

List of variants reported as uncertain significance for Werner syndrome by Baylor Genetics

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_000553.6(WRN):c.1027G>A (p.Glu343Lys) rs11574222 0.00072
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000553.6(WRN):c.835C>T (p.Arg279Trp) rs199923241 0.00019
NM_000553.6(WRN):c.2996G>A (p.Arg999His) rs769665299 0.00013
NM_000553.6(WRN):c.1424T>C (p.Met475Thr) rs140666473 0.00004
NM_000553.6(WRN):c.2300C>G (p.Thr767Arg) rs201282577 0.00004
NM_000553.6(WRN):c.485C>T (p.Thr162Ile) rs147661728 0.00004
NM_000553.6(WRN):c.137T>C (p.Phe46Ser) rs772246871 0.00003
NM_000553.6(WRN):c.1504G>C (p.Gly502Arg) rs755548890 0.00003
NM_000553.6(WRN):c.3893G>T (p.Gly1298Val) rs202129203 0.00002
NM_000553.6(WRN):c.2296C>G (p.Pro766Ala) rs781541304 0.00001
NM_000553.6(WRN):c.3914G>A (p.Arg1305Gln) rs775535952 0.00001
NM_000553.6(WRN):c.4054A>G (p.Ile1352Val) rs368551262 0.00001
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.3819+1G>C rs748618811

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