ClinVar Miner

List of variants in gene WRN reported by ITMI

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
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.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
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.107G>A (p.Arg36Gln) rs34084741 0.00091
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) rs11574250 0.00067
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_000553.6(WRN):c.3731C>T (p.Thr1244Met) rs370299361 0.00019
NM_000553.6(WRN):c.4191G>A (p.Glu1397=) rs369276959 0.00016
NM_000553.6(WRN):c.3097C>T (p.Arg1033Trp) rs143954702 0.00011
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899 0.00010
NM_000553.6(WRN):c.514A>C (p.Thr172Pro) rs367991517 0.00010
NM_000553.6(WRN):c.2165A>G (p.Asn722Ser) rs186693124 0.00004
NM_000553.6(WRN):c.2978G>A (p.Arg993His) rs370713742 0.00003
NM_000553.6(WRN):c.3251C>T (p.Ser1084Leu) rs587778748 0.00002
NM_000553.6(WRN):c.587G>A (p.Arg196His) rs561603992 0.00002
NM_000553.6(WRN):c.1240C>G (p.Leu414Val) rs587778755 0.00001
NM_000553.6(WRN):c.145T>A (p.Phe49Ile) rs587778749 0.00001
NM_000553.6(WRN):c.1708G>C (p.Val570Leu) rs587778746 0.00001
NM_000553.6(WRN):c.4165A>G (p.Lys1389Glu) rs587778751 0.00001
NM_000553.6(WRN):c.443T>A (p.Leu148Gln) rs587778753 0.00001
NM_000553.6(WRN):c.968C>T (p.Ser323Leu) rs369277330 0.00001
NM_000553.6(WRN):c.1413A>C (p.Leu471Phe) rs587778745
NM_000553.6(WRN):c.1762G>A (p.Val588Ile) rs587778747
NM_000553.6(WRN):c.3506A>G (p.Asn1169Ser) rs587778750
NM_000553.6(WRN):c.4051G>A (p.Ala1351Thr) rs587778752
NM_000553.6(WRN):c.667A>G (p.Ile223Val) rs587778754

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