ClinVar Miner

Variants in gene WRN with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
3379 122 0 64 54 0 5 118

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 37 1 0 0
likely pathogenic 37 0 4 0 0
uncertain significance 1 4 0 43 20
likely benign 0 0 43 0 27
benign 0 0 20 27 0

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.3236C>T (p.Ser1079Leu) rs3087414 0.01577
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.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.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.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
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_000553.6(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.130C>G (p.Leu44Val) rs139775895 0.00031
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) rs374154973 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.3820-12A>G rs374684032 0.00021
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600 0.00020
NM_000553.6(WRN):c.3139-9T>C rs377226126 0.00020
NM_000553.6(WRN):c.2067C>T (p.Ser689=) rs191757062 0.00010
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.1302G>A (p.Thr434=) rs374140086 0.00007
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00005
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val) rs146861737 0.00004
NM_000553.6(WRN):c.1296C>T (p.Asn432=) rs772082980 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.654+4C>T rs769275170 0.00003
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000553.6(WRN):c.210-1G>A rs758988621 0.00002
NM_000553.6(WRN):c.329dup (p.Tyr110Ter) rs766733097 0.00002
NM_000553.6(WRN):c.3417T>C (p.Ser1139=) rs752542644 0.00002
NM_000553.6(WRN):c.3460-7T>A rs1334937558 0.00002
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.2985C>T (p.Ala995=) rs150095039 0.00001
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter) rs371720457 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.3384-1G>A rs776963381 0.00001
NM_000553.6(WRN):c.3460-1G>A rs1802899166 0.00001
NM_000553.6(WRN):c.3483A>T (p.Val1161=) rs1292940121 0.00001
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter) rs762379051 0.00001
NM_000553.6(WRN):c.655-20A>G rs1056118121 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000553.6(WRN):c.88G>T (p.Glu30Ter) rs1198210848 0.00001
NM_000553.6(WRN):c.1012_1018del (p.Val338fs) rs2130118911
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs) rs1563338855
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) rs781777438
NM_000553.6(WRN):c.15del (p.Lys5fs) rs878854133
NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer) rs1585440064
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1744C>T (p.Gln582Ter) rs757808169
NM_000553.6(WRN):c.1754del (p.Pro585fs)
NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.1899-10G>T rs748285435
NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter) rs1585449207
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.210-8C>T rs1812609160
NM_000553.6(WRN):c.2166T>C (p.Asn722=) rs1334120731
NM_000553.6(WRN):c.229dup (p.Asp77fs) rs747587698
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) rs574787451
NM_000553.6(WRN):c.2448+1G>A rs2130306367
NM_000553.6(WRN):c.2503del (p.Gln835fs) rs748484883
NM_000553.6(WRN):c.2548C>T (p.Gln850Ter) rs2130322576
NM_000553.6(WRN):c.2630+1G>A rs1279240593
NM_000553.6(WRN):c.2952_2953del (p.Leu984fs) rs1802222407
NM_000553.6(WRN):c.3078A>G (p.Gly1026=) rs886062892
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000553.6(WRN):c.3382dup (p.Ser1128fs) rs778872619
NM_000553.6(WRN):c.3408dup (p.Ala1137fs) rs1284409960
NM_000553.6(WRN):c.3582G>A (p.Thr1194=) rs762685242
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000553.6(WRN):c.3726del (p.Lys1243fs) rs2130469991
NM_000553.6(WRN):c.3819+14T>C rs886062894
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.3972C>T (p.Pro1324=) rs370253199
NM_000553.6(WRN):c.3972del (p.Val1325fs)
NM_000553.6(WRN):c.4111A>T (p.Lys1371Ter)
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.464T>A (p.Leu155Ter)
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.944T>G (p.Leu315Ter) rs1813280584

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