ClinVar Miner

List of variants studied for Werner syndrome by Genome-Nilou Lab

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.3572+25_3572+26insC rs3087415 0.97612
NM_000553.6(WRN):c.96+26T>C rs2737316 0.96130
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_000553.6(WRN):c.1350+22T>C rs2737325 0.52238
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_000553.6(WRN):c.2449-42T>C rs2725352 0.45569
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_000553.6(WRN):c.3384-3T>C rs3087424 0.01376
NM_000553.6(WRN):c.2631-17A>C rs3087433 0.01054
NM_000553.6(WRN):c.2732+19A>G rs77434316 0.00923
NM_000553.6(WRN):c.2241T>G (p.Leu747=) rs2230011 0.00921
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000553.6(WRN):c.4192-39T>C rs143460277 0.00208
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) rs780963410 0.00004
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.3234-130T>C rs2725364
NM_000553.6(WRN):c.3983-12dup rs368931913
NM_000553.6(WRN):c.725-9del rs543830844
NM_000553.6(WRN):c.839+25del rs370040831

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