ClinVar Miner

List of variants reported as uncertain significance for Werner syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000553.5(WRN):c.-605C>A rs11574155 0.00988
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.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.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_000553.6(WRN):c.3059G>A (p.Arg1020His) rs115298665 0.00074
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) rs11574250 0.00067
NM_001323311.2(PURG):c.-280C>G rs578121063 0.00061
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
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.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.106C>T (p.Arg36Trp) rs141495269 0.00003
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.-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.-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.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.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.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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