ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) rs374016016 0.00026
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.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_002691.4(POLD1):c.355C>T (p.Arg119Cys) rs747614571 0.00010
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.2178G>C (p.Gln726His) rs747483140 0.00007
NM_002691.4(POLD1):c.607G>A (p.Gly203Arg) rs369896998 0.00007
NM_002691.4(POLD1):c.14G>A (p.Arg5Gln) rs748471297 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.1696G>A (p.Glu566Lys) rs372429157 0.00006
NM_002691.4(POLD1):c.1786G>A (p.Val596Ile) rs773180520 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) rs201006221 0.00006
NM_002691.4(POLD1):c.3025C>T (p.Arg1009Cys) rs753844112 0.00006
NM_002691.4(POLD1):c.3038T>C (p.Ile1013Thr) rs368439344 0.00006
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) rs772197667 0.00006
NM_002691.4(POLD1):c.358G>C (p.Gly120Arg) rs746234949 0.00006
NM_002691.4(POLD1):c.934G>A (p.Val312Met) rs371612922 0.00006
NM_002691.4(POLD1):c.1295G>A (p.Arg432Gln) rs139557851 0.00005
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr) rs775264944 0.00005
NM_002691.4(POLD1):c.3103G>C (p.Glu1035Gln) rs879254134 0.00005
NM_002691.4(POLD1):c.973A>G (p.Ile325Val) rs558345043 0.00005
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00004
NM_002691.4(POLD1):c.1233G>C (p.Gln411His) rs771349646 0.00004
NM_002691.4(POLD1):c.1276G>A (p.Gly426Ser) rs1060501840 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.2290G>A (p.Gly764Ser) rs148838746 0.00004
NM_002691.4(POLD1):c.2549G>A (p.Arg850His) rs764432550 0.00004
NM_002691.4(POLD1):c.257C>T (p.Ala86Val) rs148040399 0.00004
NM_002691.4(POLD1):c.49C>T (p.Arg17Trp) rs570461545 0.00004
NM_002691.4(POLD1):c.1156C>T (p.Arg386Cys) rs373046355 0.00003
NM_002691.4(POLD1):c.1403A>G (p.Lys468Arg) rs1004191319 0.00003
NM_002691.4(POLD1):c.1416C>T (p.Tyr472=) rs1289561228 0.00003
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) rs778037523 0.00003
NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) rs751565067 0.00003
NM_002691.4(POLD1):c.2938G>A (p.Glu980Lys) rs373389672 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002691.4(POLD1):c.3026G>A (p.Arg1009His) rs757190258 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.1070T>G (p.Leu357Arg) rs143340270 0.00002
NM_002691.4(POLD1):c.1174G>A (p.Val392Met) rs778843530 0.00002
NM_002691.4(POLD1):c.1367A>T (p.Gln456Leu) rs1157114471 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002691.4(POLD1):c.1762G>A (p.Glu588Lys) rs746649739 0.00002
NM_002691.4(POLD1):c.1918A>G (p.Thr640Ala) rs201212113 0.00002
NM_002691.4(POLD1):c.3289C>T (p.Arg1097Trp) rs755297873 0.00002
NM_002691.4(POLD1):c.469G>A (p.Gly157Arg) rs774568050 0.00002
NM_002691.4(POLD1):c.481A>T (p.Met161Leu) rs763969133 0.00002
NM_002691.4(POLD1):c.991C>T (p.Arg331Trp) rs370734242 0.00002
NM_002691.4(POLD1):c.-1G>A rs1312876547 0.00001
NM_002691.4(POLD1):c.103G>A (p.Glu35Lys) rs554554906 0.00001
NM_002691.4(POLD1):c.1117A>G (p.Lys373Glu) rs897166414 0.00001
NM_002691.4(POLD1):c.1223C>G (p.Ser408Cys) rs1433696636 0.00001
NM_002691.4(POLD1):c.1243-6C>T rs761914051 0.00001
NM_002691.4(POLD1):c.1389G>C (p.Leu463=) rs1368969207 0.00001
NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp) rs201804732 0.00001
NM_002691.4(POLD1):c.1691T>G (p.Met564Arg) rs748444470 0.00001
NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) rs768773535 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.2065C>T (p.Arg689Trp) rs747628342 0.00001
NM_002691.4(POLD1):c.2083G>A (p.Val695Met) rs1051419059 0.00001
NM_002691.4(POLD1):c.2154+4G>A rs373416476 0.00001
NM_002691.4(POLD1):c.2284C>T (p.Arg762Ter) rs769650989 0.00001
NM_002691.4(POLD1):c.2388+4C>T rs371542643 0.00001
NM_002691.4(POLD1):c.2388G>C (p.Lys796Asn) rs1060501806 0.00001
NM_002691.4(POLD1):c.2518G>A (p.Val840Met) rs763443242 0.00001
NM_002691.4(POLD1):c.2545C>T (p.Arg849Cys) rs759987234 0.00001
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile) rs367680864 0.00001
NM_002691.4(POLD1):c.2788G>A (p.Ala930Thr) rs144111108 0.00001
NM_002691.4(POLD1):c.2820+3C>T rs986822818 0.00001
NM_002691.4(POLD1):c.2829G>A (p.Leu943=) rs1225289450 0.00001
NM_002691.4(POLD1):c.2953C>T (p.Arg985Trp) rs780926432 0.00001
NM_002691.4(POLD1):c.3094C>T (p.Arg1032Trp) rs760766848 0.00001
NM_002691.4(POLD1):c.3219-8A>C rs1420038281 0.00001
NM_002691.4(POLD1):c.323C>T (p.Ala108Val) rs577686721 0.00001
NM_002691.4(POLD1):c.3290G>A (p.Arg1097Gln) rs375328523 0.00001
NM_002691.4(POLD1):c.3293G>A (p.Arg1098His) rs878854552 0.00001
NM_002691.4(POLD1):c.3321G>C (p.Trp1107Cys) rs745737815 0.00001
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn) rs781132734 0.00001
NM_002691.4(POLD1):c.525C>T (p.Asp175=) rs775285603 0.00001
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) rs914238978 0.00001
NM_002691.4(POLD1):c.724G>A (p.Ala242Thr) rs910905700 0.00001
NM_002691.4(POLD1):c.742G>A (p.Val248Ile) rs538267691 0.00001
NM_002691.4(POLD1):c.781G>A (p.Val261Ile) rs765448811 0.00001
NM_002691.4(POLD1):c.964C>T (p.Arg322Cys) rs750155990 0.00001
NM_002691.4(POLD1):c.965G>A (p.Arg322His) rs980303681 0.00001
NM_002691.4(POLD1):c.102C>A (p.Phe34Leu) rs754716741
NM_002691.4(POLD1):c.1085C>T (p.Pro362Leu) rs1601204609
NM_002691.4(POLD1):c.1107G>C (p.Gln369His) rs1400257948
NM_002691.4(POLD1):c.1138-6C>G rs1278597997
NM_002691.4(POLD1):c.1138-8del rs1555790553
NM_002691.4(POLD1):c.1195C>T (p.Gln399Ter) rs1555790575
NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn) rs1426325954
NM_002691.4(POLD1):c.1231C>G (p.Gln411Glu)
NM_002691.4(POLD1):c.1243-3C>G rs1555791075
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del) rs1300269779
NM_002691.4(POLD1):c.129G>A (p.Glu43=) rs1479865221
NM_002691.4(POLD1):c.1331G>A (p.Arg444Gln) rs201503929
NM_002691.4(POLD1):c.1340A>G (p.Lys447Arg) rs1555791135
NM_002691.4(POLD1):c.1360C>T (p.Arg454Cys) rs906743894
NM_002691.4(POLD1):c.1383+1G>A
NM_002691.4(POLD1):c.1383+4T>A rs1060501854
NM_002691.4(POLD1):c.1384-7C>G rs1406934577
NM_002691.4(POLD1):c.1400A>C (p.Tyr467Ser) rs1060501851
NM_002691.4(POLD1):c.1463A>G (p.Asp488Gly) rs1374013475
NM_002691.4(POLD1):c.15G>A (p.Arg5=) rs1057523464
NM_002691.4(POLD1):c.1687-3C>A rs878854525
NM_002691.4(POLD1):c.1687-3C>T rs878854525
NM_002691.4(POLD1):c.1776-4C>T rs1568630035
NM_002691.4(POLD1):c.17G>C (p.Arg6Pro) rs778275831
NM_002691.4(POLD1):c.2048G>A (p.Arg683His) rs754913337
NM_002691.4(POLD1):c.2126G>A (p.Gly709Asp) rs1601228154
NM_002691.4(POLD1):c.2318C>T (p.Ala773Val) rs765390600
NM_002691.4(POLD1):c.2541A>C (p.Ser847=) rs1568637090
NM_002691.4(POLD1):c.2560G>A (p.Asp854Asn) rs373650022
NM_002691.4(POLD1):c.2560G>T (p.Asp854Tyr) rs373650022
NM_002691.4(POLD1):c.2563C>G (p.Arg855Gly) rs768048535
NM_002691.4(POLD1):c.2751C>T (p.Ser917=) rs1032313424
NM_002691.4(POLD1):c.2824C>T (p.Pro942Ser) rs1203736050
NM_002691.4(POLD1):c.2855T>C (p.Ile952Thr) rs1555793299
NM_002691.4(POLD1):c.285C>G (p.Ile95Met) rs1601190870
NM_002691.4(POLD1):c.2861C>T (p.Thr954Met) rs374016016
NM_002691.4(POLD1):c.2911G>T (p.Glu971Ter) rs897259743
NM_002691.4(POLD1):c.2954-2del rs1555793399
NM_002691.4(POLD1):c.3202del (p.Asp1068fs) rs2039340383
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=) rs776167760
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.3300_3301delinsG (p.Pro1102fs) rs1555793930
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_002691.4(POLD1):c.358G>A (p.Gly120Ser) rs746234949
NM_002691.4(POLD1):c.368C>T (p.Pro123Leu) rs1601198466
NM_002691.4(POLD1):c.457C>A (p.Pro153Thr) rs1555789811
NM_002691.4(POLD1):c.462T>C (p.Pro154=) rs1019022551
NM_002691.4(POLD1):c.532G>C (p.Gly178Arg) rs140707092
NM_002691.4(POLD1):c.601T>C (p.Tyr201His) rs878854555
NM_002691.4(POLD1):c.615C>G (p.Gly205=) rs947109063
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002691.4(POLD1):c.759-6C>T rs1601201552
NM_002691.4(POLD1):c.780C>G (p.Ile260Met) rs762155346
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.840+10T>C rs1555790184
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu) rs1060501821
NM_002691.4(POLD1):c.931C>A (p.Arg311Ser) rs201010746
NM_002691.4(POLD1):c.997C>T (p.Pro333Ser) rs1601204099

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