ClinVar Miner

Variants in gene POLD1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 125
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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.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.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.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.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.2006+16C>T rs372942171 0.00017
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 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.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.2100A>G (p.Val700=) rs772468675 0.00009
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.2988G>A (p.Thr996=) rs542996664 0.00007
NM_002691.4(POLD1):c.1893-6A>C rs963949260 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002691.4(POLD1):c.651G>A (p.Pro217=) rs199622672 0.00006
NM_002691.4(POLD1):c.2717+14C>T rs367945387 0.00005
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.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.639C>T (p.Thr213=) rs139949679 0.00004
NM_002691.4(POLD1):c.957C>T (p.Cys319=) rs377300843 0.00004
NM_002691.4(POLD1):c.531C>T (p.Arg177=) rs150702648 0.00003
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_002691.4(POLD1):c.1041G>A (p.Pro347=) rs41553718 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.258G>A (p.Ala86=) rs200687128 0.00002
NM_002691.4(POLD1):c.663C>A (p.Ala221=) rs778927849 0.00002
NM_002691.4(POLD1):c.1419G>A (p.Thr473=) rs763643495 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.2163G>A (p.Thr721=) rs763876339 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.2763C>T (p.Arg921=) rs139299266 0.00001
NM_002691.4(POLD1):c.2832C>T (p.Phe944=) rs143974331 0.00001
NM_002691.4(POLD1):c.3198C>T (p.His1066=) rs569987101 0.00001
NM_002691.4(POLD1):c.606C>T (p.His202=) rs200405635 0.00001
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.1932C>T (p.Asp644=) rs80214209
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2821-48C>G rs3219439
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.463+8_463+9delinsTT rs796285537
NM_002691.4(POLD1):c.534G>C (p.Gly178=) rs376129517
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935

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