ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP
NM_001256849.1(POLD1):c.-1G>A rs1312876547
NM_001256849.1(POLD1):c.-8G>C rs1555786763
NM_001256849.1(POLD1):c.1023_1033del (p.Leu342fs) rs1555790398
NM_001256849.1(POLD1):c.1028G>A (p.Arg343His) rs140539427
NM_001256849.1(POLD1):c.1028G>C (p.Arg343Pro) rs140539427
NM_001256849.1(POLD1):c.1034G>T (p.Gly345Val) rs1555790409
NM_001256849.1(POLD1):c.1040C>T (p.Pro347Leu) rs2230243
NM_001256849.1(POLD1):c.1054C>T (p.Arg352Cys) rs762330164
NM_001256849.1(POLD1):c.1055G>A (p.Arg352His) rs556862476
NM_001256849.1(POLD1):c.1072C>T (p.Arg358Trp) rs751775497
NM_001256849.1(POLD1):c.1073G>A (p.Arg358Gln) rs878854518
NM_001256849.1(POLD1):c.1091T>C (p.Leu364Pro) rs947583054
NM_001256849.1(POLD1):c.1107G>C (p.Gln369His) rs1400257948
NM_001256849.1(POLD1):c.1115A>G (p.Glu372Gly) rs1057119431
NM_001256849.1(POLD1):c.1117A>G (p.Lys373Glu) rs897166414
NM_001256849.1(POLD1):c.1127A>G (p.Asp376Gly) rs1231801192
NM_001256849.1(POLD1):c.1137+1G>A rs1555790474
NM_001256849.1(POLD1):c.1138-3C>T rs200072694
NM_001256849.1(POLD1):c.1138-5C>A rs1374129343
NM_001256849.1(POLD1):c.1148C>T (p.Thr383Ile) rs201654210
NM_001256849.1(POLD1):c.1156C>T (p.Arg386Cys) rs373046355
NM_001256849.1(POLD1):c.1157G>A (p.Arg386His) rs764023083
NM_001256849.1(POLD1):c.1178T>C (p.Ile393Thr) rs750322846
NM_001256849.1(POLD1):c.1183G>A (p.Gly395Ser) rs1555790574
NM_001256849.1(POLD1):c.1194C>G (p.Ile398Met) rs878854519
NM_001256849.1(POLD1):c.1195C>G (p.Gln399Glu) rs1555790575
NM_001256849.1(POLD1):c.1204G>A (p.Asp402Asn) rs1426325954
NM_001256849.1(POLD1):c.1211C>T (p.Pro404Leu) rs1260247042
NM_001256849.1(POLD1):c.1225C>T (p.Arg409Trp) rs778135510
NM_001256849.1(POLD1):c.1226G>A (p.Arg409Gln) rs749611798
NM_001256849.1(POLD1):c.1234A>G (p.Thr412Ala) rs1038164521
NM_001256849.1(POLD1):c.1250C>G (p.Thr417Arg) rs1555791079
NM_001256849.1(POLD1):c.125_136del (p.Glu42_Glu45del) rs1300269779
NM_001256849.1(POLD1):c.1268G>A (p.Arg423His) rs199576140
NM_001256849.1(POLD1):c.1270G>T (p.Val424Leu) rs1315928771
NM_001256849.1(POLD1):c.1276G>A (p.Gly426Ser) rs1060501840
NM_001256849.1(POLD1):c.1289A>G (p.Asn430Ser) rs546554950
NM_001256849.1(POLD1):c.1291A>G (p.Ile431Val) rs752444746
NM_001256849.1(POLD1):c.1295G>A (p.Arg432Gln) rs139557851
NM_001256849.1(POLD1):c.1298A>T (p.Asp433Val) rs767560532
NM_001256849.1(POLD1):c.1322C>T (p.Thr441Met) rs376711125
NM_001256849.1(POLD1):c.1331G>A (p.Arg444Gln) rs201503929
NM_001256849.1(POLD1):c.1361G>A (p.Arg454His) rs1004124075
NM_001256849.1(POLD1):c.1363G>A (p.Val455Met) rs762670703
NM_001256849.1(POLD1):c.1366C>T (p.Gln456Ter) rs878854520
NM_001256849.1(POLD1):c.1367A>T (p.Gln456Leu) rs1157114471
NM_001256849.1(POLD1):c.1379T>C (p.Leu460Pro) rs1555791146
NM_001256849.1(POLD1):c.1384G>A (p.Val462Met) rs759504885
NM_001256849.1(POLD1):c.1394G>A (p.Arg465Gln) rs199700312
NM_001256849.1(POLD1):c.1403A>G (p.Lys468Arg) rs1004191319
NM_001256849.1(POLD1):c.1456_1458del (p.Lys486del) rs1555791207
NM_001256849.1(POLD1):c.1463A>G (p.Asp488Gly) rs1374013475
NM_001256849.1(POLD1):c.1465G>A (p.Val489Met) rs753244422
NM_001256849.1(POLD1):c.1471C>T (p.His491Tyr) rs1381049004
NM_001256849.1(POLD1):c.1483_1488del (p.Thr495_Asp496del) rs1555791217
NM_001256849.1(POLD1):c.1486G>C (p.Asp496His) rs777809352
NM_001256849.1(POLD1):c.1494+3G>A rs749556778
NM_001256849.1(POLD1):c.1504G>A (p.Asp502Asn) rs777866589
NM_001256849.1(POLD1):c.1505A>G (p.Asp502Gly) rs1313176102
NM_001256849.1(POLD1):c.1507C>G (p.Gln503Glu) rs1555791331
NM_001256849.1(POLD1):c.1516C>T (p.Arg506Cys) rs528292347
NM_001256849.1(POLD1):c.1517G>A (p.Arg506His) rs140379348
NM_001256849.1(POLD1):c.151_156CAGGAG[1] (p.51_52QE[1]) rs760207160
NM_001256849.1(POLD1):c.1528G>A (p.Val510Met) rs1555791349
NM_001256849.1(POLD1):c.1552C>A (p.Leu518Met) rs149043082
NM_001256849.1(POLD1):c.1562G>A (p.Arg521Gln) rs143076166
NM_001256849.1(POLD1):c.1573C>T (p.Arg525Trp) rs201804732
NM_001256849.1(POLD1):c.1594G>A (p.Ala532Thr) rs765276497
NM_001256849.1(POLD1):c.1605G>C (p.Met535Ile) rs1555791404
NM_001256849.1(POLD1):c.1610G>C (p.Arg537Thr) rs1555791415
NM_001256849.1(POLD1):c.1615A>G (p.Thr539Ala) rs1555791424
NM_001256849.1(POLD1):c.1686+5del rs1555791460
NM_001256849.1(POLD1):c.1687-1G>A rs1555791492
NM_001256849.1(POLD1):c.1687-5C>T rs199733325
NM_001256849.1(POLD1):c.17G>A (p.Arg6Gln) rs778275831
NM_001256849.1(POLD1):c.2007-4G>T rs202035484
NM_001256849.1(POLD1):c.2007-5C>T rs199506387
NM_001256849.1(POLD1):c.2017G>A (p.Glu673Lys) rs61751955
NM_001256849.1(POLD1):c.202+3A>G rs375365167
NM_001256849.1(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_001256849.1(POLD1):c.2250+4G>A rs370478977
NM_001256849.1(POLD1):c.2250+5G>C rs772130395
NM_001256849.1(POLD1):c.2251-1G>C rs1060501808
NM_001256849.1(POLD1):c.2251-4G>A rs768364989
NM_001256849.1(POLD1):c.2251-5C>T rs1236954722
NM_001256849.1(POLD1):c.2290G>A (p.Gly764Ser) rs148838746
NM_001256849.1(POLD1):c.2388+4C>T rs371542643
NM_001256849.1(POLD1):c.2388+5G>A rs750085275
NM_001256849.1(POLD1):c.2429C>T (p.Ala810Val) rs765981178
NM_001256849.1(POLD1):c.2432del (p.Gly811fs) rs1555792827
NM_001256849.1(POLD1):c.2443_2445TCC[1] (p.Ser816del) rs763850764
NM_001256849.1(POLD1):c.245C>T (p.Pro82Leu) rs201006221
NM_001256849.1(POLD1):c.2563C>T (p.Arg855Ter) rs768048535
NM_001256849.1(POLD1):c.2593C>T (p.Gln865Ter) rs1555793026
NM_001256849.1(POLD1):c.2689_2696del (p.Lys897fs) rs755492646
NM_001256849.1(POLD1):c.2717+4C>T rs1064795361
NM_001256849.1(POLD1):c.2718-4G>A rs755348897
NM_001256849.1(POLD1):c.2718-5C>T rs368965066
NM_001256849.1(POLD1):c.2821-4G>A rs369042179
NM_001256849.1(POLD1):c.2821-5C>T rs1057521374
NM_001256849.1(POLD1):c.2916del (p.Ile973fs) rs1555793339
NM_001256849.1(POLD1):c.2925C>T (p.Gly975=) rs376743216
NM_001256849.1(POLD1):c.2938_2948dup (p.Leu984fs) rs1555793355
NM_001256849.1(POLD1):c.2953+4C>T rs1057521166
NM_001256849.1(POLD1):c.2954-2del rs1555793399
NM_001256849.1(POLD1):c.2960dup (p.Asp987fs) rs1555793420
NM_001256849.1(POLD1):c.2T>A (p.Met1Lys) rs1057517594
NM_001256849.1(POLD1):c.3059G>A (p.Ser1020Asn) rs1060501819
NM_001256849.1(POLD1):c.3068-5C>T rs759650325
NM_001256849.1(POLD1):c.3115_3117del (p.Lys1039del) rs1555793593
NM_001256849.1(POLD1):c.317-2A>G rs761230747
NM_001256849.1(POLD1):c.317-5C>T rs768082423
NM_001256849.1(POLD1):c.3218+1G>A rs1484837283
NM_001256849.1(POLD1):c.3218+5G>A rs569395274
NM_001256849.1(POLD1):c.3219-5C>T rs748304578
NM_001256849.1(POLD1):c.3300_3301delinsG (p.Pro1102fs) rs1555793930
NM_001256849.1(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_001256849.1(POLD1):c.355C>T (p.Arg119Cys) rs747614571
NM_001256849.1(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_001256849.1(POLD1):c.469G>A (p.Gly157Arg) rs774568050
NM_001256849.1(POLD1):c.493C>T (p.Gln165Ter) rs1555789891
NM_001256849.1(POLD1):c.521G>A (p.Arg174Gln) rs141976385
NM_001256849.1(POLD1):c.53_61del (p.Ala18_Gly20del) rs1555789043
NM_001256849.1(POLD1):c.581C>G (p.Ser194Cys) rs144656348
NM_001256849.1(POLD1):c.583C>T (p.Arg195Ter) rs377690809
NM_001256849.1(POLD1):c.590-2A>G rs758877520
NM_001256849.1(POLD1):c.649_666dup (p.Pro217_Pro222dup) rs1064792946
NM_001256849.1(POLD1):c.653G>A (p.Arg218His) rs150010804
NM_001256849.1(POLD1):c.758+4C>G rs771346692
NM_001256849.1(POLD1):c.758+4C>T rs771346692
NM_001256849.1(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_001256849.1(POLD1):c.840+4C>G rs780257283
NM_001256849.1(POLD1):c.841-3C>T rs1397759553
NM_001256849.1(POLD1):c.841-5C>T rs530091118
NM_001256849.1(POLD1):c.931C>T (p.Arg311Cys) rs201010746
NM_001256849.1(POLD1):c.932G>A (p.Arg311His) rs777944185
NM_001256849.1(POLD1):c.934G>A (p.Val312Met) rs371612922
NM_001256849.1(POLD1):c.940A>G (p.Ser314Gly) rs1254476274
NM_001256849.1(POLD1):c.946G>A (p.Asp316Asn) rs746087148
NM_001256849.1(POLD1):c.947A>G (p.Asp316Gly) rs1555790301
NM_001256849.1(POLD1):c.953A>G (p.Glu318Gly) rs1555790304
NM_001256849.1(POLD1):c.958G>A (p.Ala320Thr) rs1488821062
NM_001256849.1(POLD1):c.961G>A (p.Gly321Ser) rs41554817
NM_001256849.1(POLD1):c.964C>T (p.Arg322Cys) rs750155990
NM_001256849.1(POLD1):c.971-4G>T rs200144991
NM_001256849.1(POLD1):c.971-4dup rs1555790379
NM_001256849.1(POLD1):c.971-5C>T rs778993986
NM_001256849.1(POLD1):c.973A>G (p.Ile325Val) rs558345043
NM_001256849.1(POLD1):c.992G>A (p.Arg331Gln) rs371120096
NM_001256849.1(POLD1):c.992G>C (p.Arg331Pro) rs371120096

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