ClinVar Miner

List of variants in gene POLD1 reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 150
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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.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.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
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.2017G>A (p.Glu673Lys) rs61751955 0.00018
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 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.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.3271G>A (p.Asp1091Asn) rs946088822 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.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.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 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.2972G>A (p.Cys991Tyr) rs775264944 0.00005
NM_002691.4(POLD1):c.3103G>C (p.Glu1035Gln) rs879254134 0.00005
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn) rs777866589 0.00004
NM_002691.4(POLD1):c.160G>A (p.Glu54Lys) rs1368414810 0.00004
NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) rs763465385 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.2549G>A (p.Arg850His) rs764432550 0.00004
NM_002691.4(POLD1):c.257C>T (p.Ala86Val) rs148040399 0.00004
NM_002691.4(POLD1):c.530G>A (p.Arg177His) rs3218750 0.00004
NM_002691.4(POLD1):c.811G>A (p.Gly271Arg) rs923485004 0.00004
NM_002691.4(POLD1):c.-23C>T rs957961260 0.00003
NM_002691.4(POLD1):c.1157G>A (p.Arg386His) rs764023083 0.00003
NM_002691.4(POLD1):c.1552C>A (p.Leu518Met) rs149043082 0.00003
NM_002691.4(POLD1):c.1955G>A (p.Arg652Gln) rs778037523 0.00003
NM_002691.4(POLD1):c.2293G>A (p.Val765Met) rs759190487 0.00003
NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) rs751565067 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.328C>T (p.Pro110Ser) rs531059492 0.00003
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.784G>A (p.Gly262Ser) rs571623032 0.00003
NM_002691.4(POLD1):c.1174G>A (p.Val392Met) rs778843530 0.00002
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) rs757575448 0.00002
NM_002691.4(POLD1):c.1517G>A (p.Arg506His) rs140379348 0.00002
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile) rs762273084 0.00002
NM_002691.4(POLD1):c.202G>A (p.Gly68Arg) rs772866918 0.00002
NM_002691.4(POLD1):c.2250+5G>C rs772130395 0.00002
NM_002691.4(POLD1):c.2624G>A (p.Arg875His) rs754832710 0.00002
NM_002691.4(POLD1):c.3219-4G>A rs756232002 0.00002
NM_002691.4(POLD1):c.1054C>T (p.Arg352Cys) rs762330164 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 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.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.2250+3C>T rs779097933 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.2372G>A (p.Arg791Gln) rs1174011798 0.00001
NM_002691.4(POLD1):c.2388+3G>A rs765678563 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.2677G>A (p.Asp893Asn) rs747559034 0.00001
NM_002691.4(POLD1):c.2773G>A (p.Val925Met) rs746950229 0.00001
NM_002691.4(POLD1):c.2803G>A (p.Ala935Thr) rs555452657 0.00001
NM_002691.4(POLD1):c.2829G>A (p.Leu943=) rs1225289450 0.00001
NM_002691.4(POLD1):c.2833G>A (p.Val945Met) rs565328583 0.00001
NM_002691.4(POLD1):c.3094C>T (p.Arg1032Trp) rs760766848 0.00001
NM_002691.4(POLD1):c.3218+1G>A rs1484837283 0.00001
NM_002691.4(POLD1):c.3221G>A (p.Arg1074Gln) rs541931950 0.00001
NM_002691.4(POLD1):c.323C>T (p.Ala108Val) rs577686721 0.00001
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn) rs781132734 0.00001
NM_002691.4(POLD1):c.464G>C (p.Gly155Ala) rs553279670 0.00001
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu) rs765185645 0.00001
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser) rs761846026 0.00001
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter) rs377690809 0.00001
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) rs914238978 0.00001
NM_002691.4(POLD1):c.868G>A (p.Val290Met) rs748657880 0.00001
NM_002691.4(POLD1):c.917G>A (p.Arg306His) rs781682472 0.00001
NM_002691.4(POLD1):c.1059G>A (p.Leu353=) rs1601204466
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) rs960226186
NM_002691.4(POLD1):c.1138-6C>G rs1278597997
NM_002691.4(POLD1):c.1168C>T (p.Pro390Ser) rs2038747136
NM_002691.4(POLD1):c.1183G>A (p.Gly395Ser) rs1555790574
NM_002691.4(POLD1):c.1195C>T (p.Gln399Ter) rs1555790575
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro) rs749611798
NM_002691.4(POLD1):c.1240A>G (p.Lys414Glu) rs1555790592
NM_002691.4(POLD1):c.125_136del (p.Glu42_Glu45del) rs1300269779
NM_002691.4(POLD1):c.1321A>T (p.Thr441Ser) rs1601215588
NM_002691.4(POLD1):c.1340A>G (p.Lys447Arg) rs1555791135
NM_002691.4(POLD1):c.1384-13C>G rs536467012
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter) rs1240526196
NM_002691.4(POLD1):c.1672dup (p.Gln558fs) rs2122340338
NM_002691.4(POLD1):c.1734C>T (p.Gly578=) rs1293284420
NM_002691.4(POLD1):c.1735G>A (p.Glu579Lys) rs1354117345
NM_002691.4(POLD1):c.1756G>A (p.Val586Ile) rs1601221294
NM_002691.4(POLD1):c.1791del (p.Ile598fs) rs2122366299
NM_002691.4(POLD1):c.201C>G (p.Asp67Glu)
NM_002691.4(POLD1):c.208G>A (p.Val70Ile) rs147911699
NM_002691.4(POLD1):c.2154+2T>C rs1555792026
NM_002691.4(POLD1):c.2154+43C>T
NM_002691.4(POLD1):c.2155-40_2155-39delinsTT
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg) rs1555789213
NM_002691.4(POLD1):c.2460_2467dup (p.Arg823fs) rs751309893
NM_002691.4(POLD1):c.2554C>T (p.Leu852Phe) rs2122467940
NM_002691.4(POLD1):c.2565-7C>T rs2039243107
NM_002691.4(POLD1):c.2705_2717+6del
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu) rs2122203287
NM_002691.4(POLD1):c.2797G>T (p.Val933Leu) rs764785216
NM_002691.4(POLD1):c.2824C>G (p.Pro942Ala) rs1203736050
NM_002691.4(POLD1):c.2837T>G (p.Leu946Arg)
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val)
NM_002691.4(POLD1):c.2911G>T (p.Glu971Ter) rs897259743
NM_002691.4(POLD1):c.2959G>A (p.Asp987Asn) rs985679759
NM_002691.4(POLD1):c.2960A>C (p.Asp987Ala) rs2122495383
NM_002691.4(POLD1):c.3023G>A (p.Arg1008His) rs763747258
NM_002691.4(POLD1):c.3219-3C>T rs1303176364
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=) rs776167760
NM_002691.4(POLD1):c.3305del (p.Pro1102fs) rs761614971
NM_002691.4(POLD1):c.343C>G (p.Pro115Ala) rs754917939
NM_002691.4(POLD1):c.344C>T (p.Pro115Leu)
NM_002691.4(POLD1):c.410_413del (p.Val137fs) rs2038649098
NM_002691.4(POLD1):c.463+6T>G rs759315897
NM_002691.4(POLD1):c.485del (p.Gly162fs)
NM_002691.4(POLD1):c.487G>T (p.Asp163Tyr) rs753299061
NM_002691.4(POLD1):c.536G>T (p.Gly179Val) rs1060501831
NM_002691.4(POLD1):c.574C>G (p.Leu192Val) rs374937343
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002691.4(POLD1):c.664C>T (p.Pro222Ser) rs1310251395
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.886G>C (p.Val296Leu)
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu) rs1060501821
NM_002691.4(POLD1):c.984G>T (p.Glu328Asp)

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