ClinVar Miner

List of variants studied for Werner syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 140
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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.-213G>A rs11574158 0.09853
NM_000553.5(WRN):c.-618C>G rs7017069 0.08717
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_000553.5(WRN):c.-278G>C rs11574157 0.06618
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_000553.6(WRN):c.*570A>G rs11574415 0.03313
NM_000553.6(WRN):c.-163C>G rs11574160 0.03283
NM_000553.5(WRN):c.-408C>T rs11574156 0.03268
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_000553.5(WRN):c.-605C>A rs11574155 0.00988
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.*415C>G rs11574412 0.00435
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_000553.6(WRN):c.*194C>T rs11574411 0.00413
NM_000553.6(WRN):c.*574C>T rs11574416 0.00316
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.*543C>G rs11574414 0.00145
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
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.3059G>A (p.Arg1020His) rs115298665 0.00074
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) rs11574250 0.00067
NM_000553.5(WRN):c.-699G>C rs578121063 0.00061
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.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) rs147117969 0.00045
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.3820-12A>G rs374684032 0.00021
NM_000553.6(WRN):c.3139-9T>C rs377226126 0.00020
NM_000553.6(WRN):c.3731C>T (p.Thr1244Met) rs370299361 0.00019
NM_000553.6(WRN):c.1531G>C (p.Asp511His) rs368413625 0.00018
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile) rs141563618 0.00017
NM_000553.5(WRN):c.-519C>A rs545194854 0.00011
NM_000553.6(WRN):c.452T>A (p.Phe151Tyr) rs200456571 0.00010
NM_000553.6(WRN):c.*588A>G rs777411815 0.00007
NM_000553.6(WRN):c.1302G>A (p.Thr434=) rs374140086 0.00007
NM_000553.6(WRN):c.*511C>T rs11574413 0.00006
NM_000553.6(WRN):c.-209T>G rs886062884 0.00006
NM_000553.6(WRN):c.*468G>A rs373416825 0.00005
NM_000553.6(WRN):c.106C>T (p.Arg36Trp) rs141495269 0.00005
NM_000553.6(WRN):c.2128A>G (p.Ile710Val) rs180814740 0.00005
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00005
NM_000553.5(WRN):c.-437C>T rs886062876 0.00004
NM_000553.6(WRN):c.2222G>A (p.Arg741Gln) rs766561388 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000553.6(WRN):c.1296C>T (p.Asn432=) rs772082980 0.00003
NM_000553.6(WRN):c.1831A>G (p.Met611Val) rs762866297 0.00003
NM_000553.6(WRN):c.2098G>A (p.Val700Ile) rs1038838933 0.00003
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000553.6(WRN):c.-197C>T rs11574159 0.00002
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) rs750052448 0.00002
NM_000553.6(WRN):c.2087T>C (p.Met696Thr) rs1246267919 0.00002
NM_000553.6(WRN):c.2569C>T (p.Arg857Cys) rs201188293 0.00002
NM_000553.6(WRN):c.3417T>C (p.Ser1139=) rs752542644 0.00002
NM_000553.6(WRN):c.3830C>G (p.Ala1277Gly) rs199849137 0.00002
NM_000553.6(WRN):c.745G>A (p.Asp249Asn) rs758055295 0.00002
NM_000553.5(WRN):c.-380G>A rs886062877 0.00001
NM_000553.6(WRN):c.*458T>A rs886062895 0.00001
NM_000553.6(WRN):c.-121C>G rs1563314112 0.00001
NM_000553.6(WRN):c.-135G>C rs1370866218 0.00001
NM_000553.6(WRN):c.-152G>A rs886062885 0.00001
NM_000553.6(WRN):c.-240G>A rs867674808 0.00001
NM_000553.6(WRN):c.-37A>G rs370014019 0.00001
NM_000553.6(WRN):c.1795A>G (p.Ile599Val) rs368931681 0.00001
NM_000553.6(WRN):c.2088+6C>T rs886062888 0.00001
NM_000553.6(WRN):c.219A>G (p.Leu73=) rs566693857 0.00001
NM_000553.6(WRN):c.2529G>C (p.Lys843Asn) rs886062889 0.00001
NM_000553.6(WRN):c.2985C>T (p.Ala995=) rs150095039 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000553.6(WRN):c.3162T>C (p.Ala1054=) rs111426441 0.00001
NM_000553.6(WRN):c.3323A>C (p.Lys1108Thr) rs201274303 0.00001
NM_000553.6(WRN):c.3343T>A (p.Cys1115Ser) rs886062893 0.00001
NM_000553.6(WRN):c.3483A>T (p.Val1161=) rs1292940121 0.00001
NM_000553.6(WRN):c.406G>A (p.Ala136Thr) rs17847582 0.00001
NM_000553.6(WRN):c.421G>A (p.Glu141Lys) rs769317785 0.00001
NM_000553.6(WRN):c.725-3del rs778493200 0.00001
NM_000553.5(WRN):c.-284dup rs886062882
NM_000553.5(WRN):c.-289delG rs886062880
NM_000553.5(WRN):c.-289dup rs886062880
NM_000553.5(WRN):c.-295_-294insG rs886062879
NM_000553.5(WRN):c.-297dup rs886062878
NM_000553.5(WRN):c.-631G>C rs10112017
NM_000553.5(WRN):c.-636G>C rs886062875
NM_000553.5(WRN):c.-677G>T rs886062874
NM_000553.5(WRN):c.-683G>T rs886062873
NM_000553.6(WRN):c.*553dup rs777731812
NM_000553.6(WRN):c.*626A>G rs886062897
NM_000553.6(WRN):c.*660T>C rs1804186813
NM_000553.6(WRN):c.-234T>A rs886062883
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1350+6T>A rs1585431454
NM_000553.6(WRN):c.16T>A (p.Leu6Met) rs202148988
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1982-2A>G rs1563351045
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.2031_2032del (p.Gly677_His678insTer) rs2130229490
NM_000553.6(WRN):c.210-8C>T rs1812609160
NM_000553.6(WRN):c.2166T>C (p.Asn722=) rs1334120731
NM_000553.6(WRN):c.2312G>C (p.Cys771Ser) rs746161973
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) rs574787451
NM_000553.6(WRN):c.2537A>G (p.Glu846Gly) rs886062890
NM_000553.6(WRN):c.2830G>A (p.Asp944Asn) rs1802213264
NM_000553.6(WRN):c.3000G>C (p.Arg1000Ser) rs886062891
NM_000553.6(WRN):c.3078A>G (p.Gly1026=) rs886062892
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.356-4A>G rs1812634176
NM_000553.6(WRN):c.3582G>A (p.Thr1194=) rs762685242
NM_000553.6(WRN):c.3819+14T>C rs886062894
NM_000553.6(WRN):c.3972C>T (p.Pro1324=) rs370253199
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.715A>G (p.Ile239Val) rs781741859
NM_000553.6(WRN):c.839+11del rs886062886
NM_000553.6(WRN):c.839+25dup rs370040831

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