ClinVar Miner

Variants in gene POLD1 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
3198 1375 0 129 130 3 2 239

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 risk factor
pathogenic 0 2 1 0 0 2
likely pathogenic 2 0 1 0 0 2
uncertain significance 1 1 0 129 22 1
likely benign 0 0 129 0 127 0
benign 0 0 22 127 0 0
risk factor 2 2 1 0 0 0

All variants with conflicting interpretations #

Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_002691.4(POLD1):c.1495-44A>G rs3219396 0.04859
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_002691.4(POLD1):c.2251-23A>G rs3218769 0.01319
NM_002691.4(POLD1):c.971-35C>T rs56368556 0.01086
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_002691.4(POLD1):c.202+41G>A rs56055109 0.01037
NM_002691.4(POLD1):c.1686+47G>A rs3219399 0.00986
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_002691.4(POLD1):c.970+49C>T rs3218761 0.00765
NM_002691.4(POLD1):c.3218+9C>T rs3219448 0.00727
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_002691.4(POLD1):c.2250+46G>C rs138169420 0.00553
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_002691.4(POLD1):c.589+31del rs572354560 0.00459
NM_002691.4(POLD1):c.1384-35A>G rs115643912 0.00387
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_002691.4(POLD1):c.2979G>A (p.Thr993=) rs3218774 0.00112
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_002691.4(POLD1):c.2250+33G>A rs3219422 0.00095
NM_002691.4(POLD1):c.3120+12G>A rs182231620 0.00094
NM_002691.4(POLD1):c.971-19G>A rs56022846 0.00089
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471 0.00083
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_002691.4(POLD1):c.3218+17G>A rs375490101 0.00061
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_002691.4(POLD1):c.2954-29C>T rs368911467 0.00039
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454 0.00034
NM_002691.4(POLD1):c.945C>T (p.Phe315=) rs150116169 0.00034
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_002691.4(POLD1):c.3219-19C>A rs374168125 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln) rs3219457 0.00025
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_002691.4(POLD1):c.885G>C (p.Val295=) rs201946114 0.00024
NM_002691.4(POLD1):c.1137+16C>T rs56082047 0.00023
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.2006+16C>T rs372942171 0.00017
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_002691.4(POLD1):c.2251-8G>A rs56051075 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002691.4(POLD1):c.1785C>T (p.Asp595=) rs769563176 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.645G>A (p.Ala215=) rs377058651 0.00011
NM_002691.4(POLD1):c.102C>T (p.Phe34=) rs754716741 0.00010
NM_002691.4(POLD1):c.1731C>T (p.Gly577=) rs376473853 0.00010
NM_002691.4(POLD1):c.3072C>T (p.Ala1024=) rs111698572 0.00010
NM_002691.4(POLD1):c.666G>A (p.Pro222=) rs746678748 0.00010
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_002691.4(POLD1):c.1626C>T (p.Pro542=) rs201208120 0.00009
NM_002691.4(POLD1):c.187G>A (p.Glu63Lys) rs200736325 0.00009
NM_002691.4(POLD1):c.2100A>G (p.Val700=) rs772468675 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr) rs753865441 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_002691.4(POLD1):c.3156G>A (p.Ser1052=) rs373910727 0.00008
NM_002691.4(POLD1):c.1062G>A (p.Ala354=) rs758535338 0.00007
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_002691.4(POLD1):c.2988G>A (p.Thr996=) rs542996664 0.00007
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.1893-6A>C rs963949260 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002691.4(POLD1):c.2717+15G>A rs372493810 0.00006
NM_002691.4(POLD1):c.3218+5G>A rs569395274 0.00006
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) rs772197667 0.00006
NM_002691.4(POLD1):c.651G>A (p.Pro217=) rs199622672 0.00006
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002691.4(POLD1):c.2717+14C>T rs367945387 0.00005
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg) rs770407151 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) rs777866589 0.00004
NM_002691.4(POLD1):c.2250+4G>A rs370478977 0.00004
NM_002691.4(POLD1):c.2250+7G>A rs775363857 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2718-5C>T rs368965066 0.00004
NM_002691.4(POLD1):c.3015C>T (p.Phe1005=) rs752830545 0.00004
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=) rs759019419 0.00004
NM_002691.4(POLD1):c.591C>T (p.Ser197=) rs751594716 0.00004
NM_002691.4(POLD1):c.639C>T (p.Thr213=) rs139949679 0.00004
NM_002691.4(POLD1):c.957C>T (p.Cys319=) rs377300843 0.00004
NM_002691.4(POLD1):c.2562C>T (p.Asp854=) rs746579020 0.00003
NM_002691.4(POLD1):c.2953+4C>T rs1057521166 0.00003
NM_002691.4(POLD1):c.3219-5C>T rs748304578 0.00003
NM_002691.4(POLD1):c.531C>T (p.Arg177=) rs150702648 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_002691.4(POLD1):c.841-5C>T rs530091118 0.00003
NM_002691.4(POLD1):c.1041G>A (p.Pro347=) rs41553718 0.00002
NM_002691.4(POLD1):c.1055G>A (p.Arg352His) rs556862476 0.00002
NM_002691.4(POLD1):c.1138-3C>T rs200072694 0.00002
NM_002691.4(POLD1):c.1597G>A (p.Val533Met) rs758602573 0.00002
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) rs765207547 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2250+5G>C rs772130395 0.00002
NM_002691.4(POLD1):c.258G>A (p.Ala86=) rs200687128 0.00002
NM_002691.4(POLD1):c.3219-4G>A rs756232002 0.00002
NM_002691.4(POLD1):c.663C>A (p.Ala221=) rs778927849 0.00002
NM_002691.4(POLD1):c.99A>G (p.Gln33=) rs751090809 0.00002
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile) rs201654210 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.1419G>A (p.Thr473=) rs763643495 0.00001
NM_002691.4(POLD1):c.1506C>A (p.Asp502Glu) rs753870010 0.00001
NM_002691.4(POLD1):c.1560G>A (p.Leu520=) rs200345841 0.00001
NM_002691.4(POLD1):c.1608G>A (p.Ala536=) rs568549476 0.00001
NM_002691.4(POLD1):c.1869G>T (p.Arg623=) rs748380365 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00001
NM_002691.4(POLD1):c.202+3A>G rs375365167 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2142G>A (p.Leu714=) rs1060501816 0.00001
NM_002691.4(POLD1):c.2154+4G>A rs373416476 0.00001
NM_002691.4(POLD1):c.2163G>A (p.Thr721=) rs763876339 0.00001
NM_002691.4(POLD1):c.2250+3C>T rs779097933 0.00001
NM_002691.4(POLD1):c.2251-4G>A rs768364989 0.00001
NM_002691.4(POLD1):c.2251-5C>T rs1236954722 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.2388+4C>T rs371542643 0.00001
NM_002691.4(POLD1):c.2565-13C>T rs559638270 0.00001
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile) rs367680864 0.00001
NM_002691.4(POLD1):c.2717+4C>T rs1064795361 0.00001
NM_002691.4(POLD1):c.273A>G (p.Thr91=) rs745850676 0.00001
NM_002691.4(POLD1):c.2763C>T (p.Arg921=) rs139299266 0.00001
NM_002691.4(POLD1):c.2820+3C>T rs986822818 0.00001
NM_002691.4(POLD1):c.2821-4G>A rs369042179 0.00001
NM_002691.4(POLD1):c.2821-5C>T rs1057521374 0.00001
NM_002691.4(POLD1):c.2832C>T (p.Phe944=) rs143974331 0.00001
NM_002691.4(POLD1):c.3079G>A (p.Glu1027Lys) rs1489140479 0.00001
NM_002691.4(POLD1):c.3120+6A>G rs1231856737 0.00001
NM_002691.4(POLD1):c.317-5C>T rs768082423 0.00001
NM_002691.4(POLD1):c.3198C>T (p.His1066=) rs569987101 0.00001
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=) rs770660636 0.00001
NM_002691.4(POLD1):c.429C>T (p.Gly143=) rs372244044 0.00001
NM_002691.4(POLD1):c.537G>T (p.Gly179=) rs756483178 0.00001
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys) rs368033860 0.00001
NM_002691.4(POLD1):c.564G>A (p.Leu188=) rs2038665417 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.606C>T (p.His202=) rs200405635 0.00001
NM_002691.4(POLD1):c.658G>A (p.Val220Met) rs749052483 0.00001
NM_002691.4(POLD1):c.758+4C>T rs771346692 0.00001
NM_002691.4(POLD1):c.789C>T (p.Cys263=) rs766087932 0.00001
NM_002691.4(POLD1):c.89G>A (p.Arg30Gln) rs765969481 0.00001
NM_002691.4(POLD1):c.1128C>A (p.Asp376Glu) rs1555790466
NM_002691.4(POLD1):c.1138-3C>A rs200072694
NM_002691.4(POLD1):c.1138-4C>G rs1601205954
NM_002691.4(POLD1):c.1138-5C>A rs1374129343
NM_002691.4(POLD1):c.1138-5C>T rs1374129343
NM_002691.4(POLD1):c.1140C>A (p.Ala380=) rs1555790554
NM_002691.4(POLD1):c.1243-11CTC[2] rs760329559
NM_002691.4(POLD1):c.1273G>T (p.Ala425Ser) rs1027677934
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro) rs587777627
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) rs397514632
NM_002691.4(POLD1):c.143A>G (p.His48Arg) rs1555789124
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.1495-3C>T rs1555791320
NM_002691.4(POLD1):c.1630A>G (p.Ser544Gly) rs2038922133
NM_002691.4(POLD1):c.1687-5C>T rs199733325
NM_002691.4(POLD1):c.1716G>T (p.Val572=) rs1568628387
NM_002691.4(POLD1):c.1776-4C>T rs1568630035
NM_002691.4(POLD1):c.1816C>A (p.Leu606Met) rs1568630225
NM_002691.4(POLD1):c.1932C>T (p.Asp644=) rs80214209
NM_002691.4(POLD1):c.2007-4G>C rs202035484
NM_002691.4(POLD1):c.2007-4G>T rs202035484
NM_002691.4(POLD1):c.208G>A (p.Val70Ile) rs147911699
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2155-5G>A rs891420901
NM_002691.4(POLD1):c.217T>A (p.Ser73Thr) rs775119313
NM_002691.4(POLD1):c.2232C>G (p.Gly744=) rs1247893374
NM_002691.4(POLD1):c.2284C>A (p.Arg762=) rs769650989
NM_002691.4(POLD1):c.2376G>A (p.Leu792=) rs2039181523
NM_002691.4(POLD1):c.2563C>A (p.Arg855=) rs768048535
NM_002691.4(POLD1):c.2565-5T>C rs2122474072
NM_002691.4(POLD1):c.256G>C (p.Ala86Pro) rs2122202540
NM_002691.4(POLD1):c.2717+11G>A rs753506843
NM_002691.4(POLD1):c.2821-48C>G rs3219439
NM_002691.4(POLD1):c.2952G>A (p.Leu984=)
NM_002691.4(POLD1):c.3009G>T (p.Leu1003=) rs747794145
NM_002691.4(POLD1):c.3068-5C>T rs759650325
NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) rs2039339156
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.3219-25_3219-20dup rs375276363
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=) rs776167760
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_002691.4(POLD1):c.463+6T>G rs759315897
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002691.4(POLD1):c.498G>T (p.Arg166=) rs758097576
NM_002691.4(POLD1):c.534G>C (p.Gly178=) rs376129517
NM_002691.4(POLD1):c.588G>A (p.Glu196=) rs2038667190
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002691.4(POLD1):c.758+4C>G rs771346692
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935
NM_002691.4(POLD1):c.971-4G>T rs200144991
NM_002691.4(POLD1):c.971-5C>G rs778993986
NM_002691.4(POLD1):c.971-5C>T rs778993986
NM_002691.4(POLD1):c.980C>T (p.Pro327Leu) rs397514633

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