ClinVar Miner

List of variants reported as benign for Werner syndrome by Invitae

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
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.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.3572+19G>A rs201521208 0.00490
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.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.1981+11A>G rs189999761 0.00240
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
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.144A>G (p.Glu48=) rs145959045 0.00133
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.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_000553.6(WRN):c.1350+3A>G rs182813211 0.00108
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_000553.6(WRN):c.4248T>C (p.Asp1416=) rs112024742 0.00053
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.2088+20A>G rs540283267 0.00034
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.210-17T>G rs368380436 0.00028
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_000553.6(WRN):c.3820-12A>G rs374684032 0.00021
NM_000553.6(WRN):c.2256A>G (p.Pro752=) rs372016270 0.00012
NM_000553.6(WRN):c.2630+11T>A rs202013204 0.00006
NM_000553.6(WRN):c.3309+13G>T rs554036292 0.00004
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) rs780963410 0.00004
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000553.6(WRN):c.1247A>G (p.Asp416Gly) rs560922465
NM_000553.6(WRN):c.1432-11del
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1721-10dup
NM_000553.6(WRN):c.1898+15del rs1813762165
NM_000553.6(WRN):c.1982-13del
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.1982-6_1982-5del rs397723919
NM_000553.6(WRN):c.2089-12del
NM_000553.6(WRN):c.210-11dup rs2130031812
NM_000553.6(WRN):c.2630+10dup rs747115098
NM_000553.6(WRN):c.2733-12del
NM_000553.6(WRN):c.2826-7del
NM_000553.6(WRN):c.3139-12del
NM_000553.6(WRN):c.3139-6dup
NM_000553.6(WRN):c.3233+20del
NM_000553.6(WRN):c.3233+20dup rs758713751
NM_000553.6(WRN):c.3234-13dup rs1802686931
NM_000553.6(WRN):c.3384-12del
NM_000553.6(WRN):c.3460-7dup
NM_000553.6(WRN):c.356-9dup rs2130035725
NM_000553.6(WRN):c.3687+6dup
NM_000553.6(WRN):c.3983-12del
NM_000553.6(WRN):c.3983-12dup rs368931913
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.655-5dup
NM_000553.6(WRN):c.725-4dup
NM_000553.6(WRN):c.840-3del rs753661471
NM_000553.6(WRN):c.840-3dup rs753661471
NM_000553.6(WRN):c.840-4_840-3dup

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