ClinVar Miner

List of variants in gene POLH, POLR1C studied for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_006502.3(POLH):c.*1858A>G rs9472090 0.19853
NM_006502.3(POLH):c.*290C>T rs6899628 0.12458
NM_006502.3(POLH):c.*2489C>T rs6922830 0.12414
NM_006502.3(POLH):c.1939A>T (p.Met647Leu) rs6941583 0.11871
NM_006502.3(POLH):c.*3847G>A rs145612937 0.05869
NM_006502.3(POLH):c.1434G>A (p.Thr478=) rs3734690 0.05476
NM_006502.3(POLH):c.*537C>T rs55704248 0.04781
NM_006502.3(POLH):c.*1129A>T rs28877272 0.03612
NM_006502.3(POLH):c.*50A>G rs1064260 0.03592
NM_006502.3(POLH):c.*1364T>A rs9333565 0.03584
NM_006502.3(POLH):c.*2975C>A rs112207298 0.03584
NM_006502.3(POLH):c.*5713T>C rs75658777 0.03578
NM_006502.3(POLH):c.*952C>T rs1141338 0.03574
NM_006502.3(POLH):c.*1110A>T rs112725367 0.03563
NM_006502.3(POLH):c.*1055A>T rs115129476 0.02324
NM_006502.3(POLH):c.*1679C>T rs113292021 0.02043
NM_006502.3(POLH):c.*2659T>C rs9462906 0.01968
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_006502.3(POLH):c.*693C>T rs9333558 0.01766
NM_006502.3(POLH):c.*5697G>A rs113410952 0.01678
NM_006502.3(POLH):c.*2499G>A rs147353387 0.01369
NM_006502.3(POLH):c.1751T>C (p.Leu584Pro) rs9333554 0.01368
NM_006502.3(POLH):c.*429G>A rs9333556 0.01366
NM_006502.3(POLH):c.*1156G>A rs9333560 0.01316
NM_006502.3(POLH):c.*1179G>A rs9333561 0.01249
NM_006502.3(POLH):c.*3318G>A rs142340697 0.01222
NM_006502.3(POLH):c.*3611T>A rs73428626 0.00834
NM_006502.3(POLH):c.*371A>G rs59061501 0.00736
NM_006502.3(POLH):c.*1549C>T rs186059509 0.00525
NM_006502.3(POLH):c.986C>T (p.Thr329Ile) rs35675573 0.00520
NM_006502.3(POLH):c.*639G>A rs9333557 0.00444
NM_006502.3(POLH):c.*1201C>T rs9333562 0.00414
NM_006502.3(POLH):c.*4310G>A rs539003236 0.00414
NM_006502.3(POLH):c.*546T>G rs150227941 0.00378
NM_006502.3(POLH):c.*1959A>C rs553213267 0.00296
NM_006502.3(POLH):c.*2269C>T rs140288120 0.00257
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_006502.3(POLH):c.1572A>C (p.Gln524His) rs138752565 0.00198
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr) rs151095678 0.00178
NM_006502.3(POLH):c.*1615C>T rs536734238 0.00173
NM_006502.3(POLH):c.*31A>G rs201946729 0.00173
NM_006502.3(POLH):c.*998A>G rs550215250 0.00153
NM_006502.3(POLH):c.*3225G>A rs566903053 0.00142
NM_006502.3(POLH):c.*720T>C rs757405088 0.00137
NM_006502.3(POLH):c.*1336G>A rs9333563 0.00135
NM_006502.3(POLH):c.*3692G>A rs568140214 0.00134
NM_006502.3(POLH):c.*4734G>A rs192191937 0.00130
NM_006502.3(POLH):c.*4768G>A rs181984888 0.00128
NM_006502.3(POLH):c.*4271G>A rs56786163 0.00108
NM_006502.3(POLH):c.*4928T>C rs556045922 0.00108
NM_006502.3(POLH):c.*3250G>A rs183729246 0.00104
NM_006502.3(POLH):c.*4959T>A rs185032976 0.00093
NM_006502.3(POLH):c.*3238C>T rs193130018 0.00084
NM_006502.3(POLH):c.*698C>T rs570835057 0.00083
NM_006502.3(POLH):c.698A>G (p.Asn233Ser) rs61756403 0.00083
NM_006502.3(POLH):c.*599T>C rs185601425 0.00078
NM_006502.3(POLH):c.*3088G>A rs373844625 0.00072
NM_006502.3(POLH):c.*3022A>T rs545966780 0.00060
NM_006502.3(POLH):c.*3685G>A rs867865820 0.00057
NM_006502.3(POLH):c.815T>C (p.Ile272Thr) rs147712217 0.00055
NM_006502.3(POLH):c.738C>T (p.Leu246=) rs145530456 0.00049
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_006502.3(POLH):c.*3608A>T rs564179351 0.00045
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_006502.3(POLH):c.*4624G>A rs769857583 0.00044
NM_006502.3(POLH):c.*3472A>G rs146828890 0.00043
NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) rs149030396 0.00043
NM_006502.3(POLH):c.*4368C>T rs764661120 0.00042
NM_006502.3(POLH):c.*2513A>T rs111841811 0.00037
NM_006502.3(POLH):c.*1594G>T rs1004799524 0.00034
NM_006502.3(POLH):c.*2568G>A rs777431113 0.00034
NM_006502.3(POLH):c.*1650G>A rs886061449 0.00030
NM_006502.3(POLH):c.*4531_*4532del rs767288700 0.00029
NM_006502.3(POLH):c.1299C>A (p.Ala433=) rs140331414 0.00029
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_006502.3(POLH):c.-242C>G rs56210561 0.00027
NM_006502.3(POLH):c.*181C>T rs548852305 0.00026
NM_006502.3(POLH):c.*1778T>C rs187426826 0.00025
NM_006502.3(POLH):c.*4208G>T rs987807067 0.00022
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589 0.00021
NM_006502.3(POLH):c.*3828C>T rs905445904 0.00019
NM_006502.3(POLH):c.*1735A>G rs886061450 0.00016
NM_006502.3(POLH):c.*4511T>C rs572839059 0.00016
NM_006502.3(POLH):c.*3744G>A rs181271522 0.00015
NM_006502.3(POLH):c.*3800T>C rs184188381 0.00015
NM_006502.3(POLH):c.*1547G>A rs894218562 0.00014
NM_006502.3(POLH):c.*2080G>T rs573463716 0.00014
NM_006502.3(POLH):c.491-4T>G rs185508862 0.00014
NM_006502.3(POLH):c.*4160G>A rs570224794 0.00013
NM_006502.3(POLH):c.*1139C>T rs886061446 0.00012
NM_006502.3(POLH):c.*4785G>C rs1483197693 0.00012
NM_006502.3(POLH):c.887C>T (p.Ser296Phe) rs200149644 0.00011
NM_006502.3(POLH):c.*985G>A rs886061443 0.00010
NM_006502.3(POLH):c.525C>T (p.Leu175=) rs150901869 0.00010
NM_006502.3(POLH):c.*1103A>G rs886061445 0.00009
NM_006502.3(POLH):c.*2441T>C rs182931718 0.00009
NM_006502.3(POLH):c.*2844G>A rs762959721 0.00009
NM_006502.3(POLH):c.*4767C>T rs563377707 0.00009
NM_006502.3(POLH):c.*4143G>A rs1414088182 0.00008
NM_006502.3(POLH):c.*5731C>T rs187080217 0.00008
NM_006502.3(POLH):c.272+4A>G rs373430329 0.00008
NM_006502.3(POLH):c.*3684C>T rs909174318 0.00007
NM_006502.3(POLH):c.*1916C>T rs772988854 0.00006
NM_006502.3(POLH):c.*2074C>T rs886061457 0.00006
NM_006502.3(POLH):c.*2600C>T rs769907355 0.00006
NM_006502.3(POLH):c.*3631G>A rs368674951 0.00006
NM_006502.3(POLH):c.*5007T>A rs886061472 0.00006
NM_006502.3(POLH):c.2031A>T (p.Val677=) rs746206386 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_006502.3(POLH):c.413C>T (p.Ser138Leu) rs142827517 0.00006
NM_006502.3(POLH):c.*1841A>G rs566505638 0.00005
NM_006502.3(POLH):c.*2151A>G rs190641689 0.00004
NM_006502.3(POLH):c.*2692G>A rs886061459 0.00004
NM_006502.3(POLH):c.*2901T>C rs187347958 0.00004
NM_006502.3(POLH):c.*3416G>C rs577482466 0.00004
NM_006502.3(POLH):c.*3630C>T rs901803673 0.00004
NM_006502.3(POLH):c.*4112C>T rs189826940 0.00004
NM_006502.3(POLH):c.*4159C>T rs182038252 0.00004
NM_006502.3(POLH):c.*871G>A rs886061441 0.00004
NM_006502.3(POLH):c.1491G>A (p.Ser497=) rs145050695 0.00004
NM_006502.3(POLH):c.210G>T (p.Lys70Asn) rs149295738 0.00004
NM_006502.3(POLH):c.232G>A (p.Ala78Thr) rs372613817 0.00004
NM_006502.3(POLH):c.25G>T (p.Val9Phe) rs781288440 0.00004
NM_006502.3(POLH):c.*1535C>T rs1363397499 0.00003
NM_006502.3(POLH):c.*2725G>A rs553948056 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_006502.3(POLH):c.248C>T (p.Ser83Phe) rs774770256 0.00003
NM_006502.3(POLH):c.*1940G>A rs527613993 0.00002
NM_006502.3(POLH):c.*3067A>T rs886061462 0.00002
NM_006502.3(POLH):c.*3724G>A rs1231636799 0.00002
NM_006502.3(POLH):c.1406C>T (p.Ala469Val) rs200438344 0.00002
NM_006502.3(POLH):c.1483G>A (p.Glu495Lys) rs759840056 0.00002
NM_006502.3(POLH):c.149dup (p.Ser51fs) rs752080248 0.00002
NM_006502.3(POLH):c.1833A>G (p.Lys611=) rs748367351 0.00002
NM_006502.3(POLH):c.1959T>C (p.Tyr653=) rs201357691 0.00002
NM_006502.3(POLH):c.229C>T (p.Leu77=) rs199840329 0.00002
NM_006502.3(POLH):c.458G>A (p.Gly153Asp) rs367709714 0.00002
NM_006502.3(POLH):c.467C>T (p.Thr156Met) rs139742736 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_006502.3(POLH):c.672_673insT (p.Leu225fs) rs772778835 0.00002
NM_006502.3(POLH):c.*1219A>T rs886061447 0.00001
NM_006502.3(POLH):c.*1764C>T rs886061451 0.00001
NM_006502.3(POLH):c.*1819A>G rs886061453 0.00001
NM_006502.3(POLH):c.*1984A>G rs886061455 0.00001
NM_006502.3(POLH):c.*2454G>A rs1413984555 0.00001
NM_006502.3(POLH):c.*2814A>G rs1768416433 0.00001
NM_006502.3(POLH):c.*3842G>A rs963437814 0.00001
NM_006502.3(POLH):c.*4845T>C rs947397281 0.00001
NM_006502.3(POLH):c.*5164T>C rs182401803 0.00001
NM_006502.3(POLH):c.*5199A>G rs886061475 0.00001
NM_006502.3(POLH):c.*5349T>C rs886061476 0.00001
NM_006502.3(POLH):c.*671C>T rs886061438 0.00001
NM_006502.3(POLH):c.-4-1G>C rs1461960812 0.00001
NM_006502.3(POLH):c.1074+7T>G rs765856970 0.00001
NM_006502.3(POLH):c.1266T>C (p.Leu422=) rs758340317 0.00001
NM_006502.3(POLH):c.1637A>G (p.Asn546Ser) rs886061436 0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) rs121908565 0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs) rs1176350430 0.00001
NM_006502.3(POLH):c.251G>A (p.Arg84His) rs565487114 0.00001
NM_006502.3(POLH):c.396A>G (p.Leu132=) rs1449546916 0.00001
NM_006502.3(POLH):c.660+10A>C rs56056074 0.00001
NM_006502.3(POLH):c.725C>G (p.Ser242Ter) rs745778317 0.00001
NM_006502.3(POLH):c.764+1G>A rs772570523 0.00001
NM_006502.3(POLH):c.764+2dup rs1400692798 0.00001
NM_006502.3(POLH):c.791C>T (p.Ala264Val) rs1397704950 0.00001
NM_006502.3(POLH):c.7A>G (p.Thr3Ala) rs1368911954 0.00001
NM_006502.3(POLH):c.907C>T (p.Arg303Ter) rs759607901 0.00001
NM_006502.2(POLH):c.1075-?_1244+?del
NM_006502.3(POLH):c.*1091T>A rs886061444
NM_006502.3(POLH):c.*1346C>T rs1768290948
NM_006502.3(POLH):c.*1528G>A rs938339228
NM_006502.3(POLH):c.*1815T>C rs886061452
NM_006502.3(POLH):c.*1846G>A rs886061454
NM_006502.3(POLH):c.*1925G>A rs552157109
NM_006502.3(POLH):c.*2042_*2043dup rs368089629
NM_006502.3(POLH):c.*2043dup rs368089629
NM_006502.3(POLH):c.*2094T>G rs1768370258
NM_006502.3(POLH):c.*2280A>C rs886061458
NM_006502.3(POLH):c.*2289T>A rs1282502713
NM_006502.3(POLH):c.*2423A>G rs1768389027
NM_006502.3(POLH):c.*2537G>T rs757791454
NM_006502.3(POLH):c.*2573C>T rs1436713633
NM_006502.3(POLH):c.*2812_*2820delinsCC rs886061460
NM_006502.3(POLH):c.*281T>G rs559642468
NM_006502.3(POLH):c.*2G>T rs767194898
NM_006502.3(POLH):c.*3051_*3052del rs568828810
NM_006502.3(POLH):c.*3335C>A rs886061463
NM_006502.3(POLH):c.*3670C>T rs886061464
NM_006502.3(POLH):c.*3753C>T rs373349453
NM_006502.3(POLH):c.*3769T>C rs886061465
NM_006502.3(POLH):c.*3855A>G rs1026372453
NM_006502.3(POLH):c.*408T>A rs995782976
NM_006502.3(POLH):c.*4388TATTT[1] rs565512423
NM_006502.3(POLH):c.*4413_*4414dup rs55760315
NM_006502.3(POLH):c.*4414del rs55760315
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.*4633C>T rs886061468
NM_006502.3(POLH):c.*4791G>C rs1768554815
NM_006502.3(POLH):c.*4806del rs886061469
NM_006502.3(POLH):c.*4807del rs886061470
NM_006502.3(POLH):c.*4837dup rs60046548
NM_006502.3(POLH):c.*4857G>A rs973591123
NM_006502.3(POLH):c.*5020G>A rs1326871134
NM_006502.3(POLH):c.*5071AG[2] rs886061473
NM_006502.3(POLH):c.*5140C>T rs950438622
NM_006502.3(POLH):c.*5142_*5146del rs886061474
NM_006502.3(POLH):c.*5630G>A rs116106873
NM_006502.3(POLH):c.*5786G>A rs1768632574
NM_006502.3(POLH):c.*5933T>A rs567230078
NM_006502.3(POLH):c.*5934G>A rs534751786
NM_006502.3(POLH):c.*5936del rs200163087
NM_006502.3(POLH):c.*700T>C rs886061439
NM_006502.3(POLH):c.*865G>A rs886061440
NM_006502.3(POLH):c.*884G>T rs1768261073
NM_006502.3(POLH):c.*954C>T rs886061442
NM_006502.3(POLH):c.-252G>C rs1419194904
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006502.3(POLH):c.1000C>T (p.Arg334Trp) rs9333548
NM_006502.3(POLH):c.106_118del (p.Val36fs) rs2127773185
NM_006502.3(POLH):c.1074T>G (p.Asp358Glu) rs886061433
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.3(POLH):c.112C>G (p.Gln38Glu) rs2127773194
NM_006502.3(POLH):c.1163C>A (p.Thr388Asn) rs370443606
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.1288T>C (p.Ser430Pro) rs886061435
NM_006502.3(POLH):c.134G>A (p.Gly45Asp) rs2127773221
NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del) rs1276240965
NM_006502.3(POLH):c.1561C>T (p.Gln521Ter) rs2127821940
NM_006502.3(POLH):c.1568G>T (p.Ser523Ile) rs1273407528
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
NM_006502.3(POLH):c.1635T>G (p.Asn545Lys) rs2127822032
NM_006502.3(POLH):c.1656C>G (p.Pro552=) rs148589983
NM_006502.3(POLH):c.1664del (p.Asn555fs) rs886039225
NM_006502.3(POLH):c.1721G>A (p.Cys574Tyr) rs761982554
NM_006502.3(POLH):c.1870C>G (p.Pro624Ala) rs886061437
NM_006502.3(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.3(POLH):c.189G>C (p.Met63Ile) rs946206811
NM_006502.3(POLH):c.1953G>A (p.Met651Ile) rs1768184352
NM_006502.3(POLH):c.1977G>A (p.Leu659=) rs1768186117
NM_006502.3(POLH):c.2091G>A (p.Arg697=) rs1768196597
NM_006502.3(POLH):c.2119T>G (p.Phe707Val) rs2127822760
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) rs1426687865
NM_006502.3(POLH):c.341T>C (p.Ile114Thr) rs1437060722
NM_006502.3(POLH):c.34G>C (p.Val12Leu) rs552779831
NM_006502.3(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.3(POLH):c.409A>G (p.Ile137Val) rs767257383
NM_006502.3(POLH):c.424T>C (p.Leu142=) rs997248275
NM_006502.3(POLH):c.490+1del rs1561900325
NM_006502.3(POLH):c.54_57del (p.Val19fs) rs2127773120
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)
NM_006502.3(POLH):c.638C>G (p.Ser213Ter) rs763654639
NM_006502.3(POLH):c.709C>G (p.Leu237Val) rs1766680050
NM_006502.3(POLH):c.723G>A (p.Gly241=) rs781009488
NM_006502.3(POLH):c.884+20dup rs199876593
NM_006502.3(POLH):c.916G>T (p.Glu306Ter) rs121908562

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