ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 129
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
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.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
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.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
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.3068-14C>T rs3218758 0.00041
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
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.2007-5C>T rs199506387 0.00019
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
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.2178G>C (p.Gln726His) rs747483140 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.2326C>T (p.Arg776Trp) rs780138978 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.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg) rs770407151 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.591C>T (p.Ser197=) rs751594716 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.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.841-5C>T rs530091118 0.00003
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.2250+5G>C rs772130395 0.00002
NM_002691.4(POLD1):c.3219-4G>A rs756232002 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.1506C>A (p.Asp502Glu) rs753870010 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.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.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.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.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.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.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.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.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.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.3258G>C (p.Arg1086=) rs776167760
NM_002691.4(POLD1):c.463+6T>G rs759315897
NM_002691.4(POLD1):c.498G>T (p.Arg166=) rs758097576
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.971-4G>T rs200144991
NM_002691.4(POLD1):c.971-5C>G rs778993986
NM_002691.4(POLD1):c.971-5C>T rs778993986

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