ClinVar Miner

List of variants in gene WRN reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
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.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.355+4G>C rs145764920 0.00156
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.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.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
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.229G>C (p.Asp77His) rs144670883 0.00025
NM_000553.6(WRN):c.2067C>T (p.Ser689=) rs191757062 0.00010
NM_000553.6(WRN):c.2521G>A (p.Ala841Thr) rs748169173 0.00006
NM_000553.6(WRN):c.3091G>C (p.Val1031Leu) rs138492730 0.00006
NM_000553.6(WRN):c.1879G>A (p.Val627Ile) rs374688634 0.00004
NM_000553.6(WRN):c.3383+5A>C rs374867947 0.00004
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) rs780963410 0.00004
NM_000553.6(WRN):c.1005A>T (p.Glu335Asp) rs770764781 0.00002
NM_000553.6(WRN):c.1992C>T (p.Leu664=) rs794727200 0.00001
NM_000553.6(WRN):c.4035G>A (p.Thr1345=) rs767115441 0.00001
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) rs781777438
NM_000553.6(WRN):c.2784A>G (p.Gly928=) rs755729832
NM_000553.6(WRN):c.2900dup (p.Leu967fs) rs1554530901
NM_000553.6(WRN):c.3098G>T (p.Arg1033Leu) rs367789256
NM_000553.6(WRN):c.504+4A>G rs1563330043
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.747C>T (p.Asp249=) rs374142752
NM_000553.6(WRN):c.769A>G (p.Ile257Val) rs886044530

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