ClinVar Miner

List of variants in gene POLH reported as uncertain significance for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP
NM_001291969.2(POLH):c.*4388_*4392TATTT[1] rs565512423
NM_001291969.2(POLH):c.*5071_*5072AG[2] rs886061473
NM_001291970.2(POLH):c.1245-69CTC[2] rs747834463
NM_006502.2(POLH):c.*1091T>A rs886061444
NM_006502.2(POLH):c.*1103A>G rs886061445
NM_006502.2(POLH):c.*1139C>T rs886061446
NM_006502.2(POLH):c.*1219A>T rs886061447
NM_006502.2(POLH):c.*1615C>T rs536734238
NM_006502.2(POLH):c.*1650G>A rs886061449
NM_006502.2(POLH):c.*1735A>G rs886061450
NM_006502.2(POLH):c.*1764C>T rs886061451
NM_006502.2(POLH):c.*1815T>C rs886061452
NM_006502.2(POLH):c.*1819A>G rs886061453
NM_006502.2(POLH):c.*1841A>G rs566505638
NM_006502.2(POLH):c.*1846G>A rs886061454
NM_006502.2(POLH):c.*1916C>T rs772988854
NM_006502.2(POLH):c.*1959A>C rs553213267
NM_006502.2(POLH):c.*1984A>G rs886061455
NM_006502.2(POLH):c.*2042_*2043dup rs368089629
NM_006502.2(POLH):c.*2074C>T rs886061457
NM_006502.2(POLH):c.*2080G>T rs573463716
NM_006502.2(POLH):c.*2151A>G rs190641689
NM_006502.2(POLH):c.*2280A>C rs886061458
NM_006502.2(POLH):c.*2441T>C rs182931718
NM_006502.2(POLH):c.*2600C>T rs769907355
NM_006502.2(POLH):c.*2692G>A rs886061459
NM_006502.2(POLH):c.*2725G>A rs553948056
NM_006502.2(POLH):c.*2812_*2820delinsCC rs886061460
NM_006502.2(POLH):c.*2901T>C rs187347958
NM_006502.2(POLH):c.*3051_*3052del rs568828810
NM_006502.2(POLH):c.*3067A>T rs886061462
NM_006502.2(POLH):c.*3225G>A rs566903053
NM_006502.2(POLH):c.*3238C>T rs193130018
NM_006502.2(POLH):c.*3335C>A rs886061463
NM_006502.2(POLH):c.*3416G>C rs577482466
NM_006502.2(POLH):c.*3670C>T rs886061464
NM_006502.2(POLH):c.*3685G>A rs867865820
NM_006502.2(POLH):c.*3692G>A rs568140214
NM_006502.2(POLH):c.*3744G>A rs181271522
NM_006502.2(POLH):c.*3753C>T rs373349453
NM_006502.2(POLH):c.*3769T>C rs886061465
NM_006502.2(POLH):c.*3800T>C rs184188381
NM_006502.2(POLH):c.*4112C>T rs189826940
NM_006502.2(POLH):c.*4271G>A rs56786163
NM_006502.2(POLH):c.*4310G>A rs539003236
NM_006502.2(POLH):c.*4368C>T rs764661120
NM_006502.2(POLH):c.*4413_*4414dup rs55760315
NM_006502.2(POLH):c.*4414del rs55760315
NM_006502.2(POLH):c.*4511T>C rs572839059
NM_006502.2(POLH):c.*4531_*4532del rs767288700
NM_006502.2(POLH):c.*4624G>A rs769857583
NM_006502.2(POLH):c.*4633C>T rs886061468
NM_006502.2(POLH):c.*4734G>A rs192191937
NM_006502.2(POLH):c.*4767C>T rs563377707
NM_006502.2(POLH):c.*4806del rs886061469
NM_006502.2(POLH):c.*4807del rs886061470
NM_006502.2(POLH):c.*4837dup rs60046548
NM_006502.2(POLH):c.*5007T>A rs886061472
NM_006502.2(POLH):c.*5142_*5146del rs886061474
NM_006502.2(POLH):c.*5199A>G rs886061475
NM_006502.2(POLH):c.*5349T>C rs886061476
NM_006502.2(POLH):c.*671C>T rs886061438
NM_006502.2(POLH):c.*698C>T rs570835057
NM_006502.2(POLH):c.*700T>C rs886061439
NM_006502.2(POLH):c.*865G>A rs886061440
NM_006502.2(POLH):c.*871G>A rs886061441
NM_006502.2(POLH):c.*954C>T rs886061442
NM_006502.2(POLH):c.*985G>A rs886061443
NM_006502.2(POLH):c.-195G>A rs780824153
NM_006502.2(POLH):c.-216C>T rs886061431
NM_006502.2(POLH):c.-219T>A rs750754629
NM_006502.2(POLH):c.-232C>A rs542595870
NM_006502.2(POLH):c.-239G>T rs867581716
NM_006502.2(POLH):c.-242C>G rs56210561
NM_006502.2(POLH):c.-274C>A rs185054720
NM_006502.2(POLH):c.-282A>G rs779473846
NM_006502.2(POLH):c.-285C>A rs886061430
NM_006502.2(POLH):c.-288C>T rs886061429
NM_006502.2(POLH):c.-4-1G>C rs1461960812
NM_006502.2(POLH):c.-5+3A>G rs9357415
NM_006502.2(POLH):c.-62C>T rs537011297
NM_006502.2(POLH):c.-87del rs886061432
NM_006502.2(POLH):c.1074+7T>G rs765856970
NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) rs886061433
NM_006502.2(POLH):c.1266T>C (p.Leu422=) rs758340317
NM_006502.2(POLH):c.1288T>C (p.Ser430Pro) rs886061435
NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) rs759840056
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.1637A>G (p.Asn546Ser) rs886061436
NM_006502.2(POLH):c.1721G>A (p.Cys574Tyr) rs761982554
NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) rs121908565
NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) rs886061437
NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) rs151095678
NM_006502.2(POLH):c.232G>A (p.Ala78Thr) rs372613817
NM_006502.2(POLH):c.490+1del rs1561900325
NM_006502.2(POLH):c.491-4T>G rs185508862
NM_006502.2(POLH):c.738C>T (p.Leu246=) rs145530456
NM_006502.2(POLH):c.887C>T (p.Ser296Phe) rs200149644
NM_006502.3(POLH):c.*1346C>T
NM_006502.3(POLH):c.*1528G>A
NM_006502.3(POLH):c.*1535C>T
NM_006502.3(POLH):c.*1547G>A
NM_006502.3(POLH):c.*1594G>T
NM_006502.3(POLH):c.*1778T>C
NM_006502.3(POLH):c.*181C>T
NM_006502.3(POLH):c.*1925G>A
NM_006502.3(POLH):c.*2094T>G
NM_006502.3(POLH):c.*2289T>A
NM_006502.3(POLH):c.*2423A>G
NM_006502.3(POLH):c.*2454G>A
NM_006502.3(POLH):c.*2537G>T
NM_006502.3(POLH):c.*2568G>A
NM_006502.3(POLH):c.*2573C>T
NM_006502.3(POLH):c.*2814A>G
NM_006502.3(POLH):c.*281T>G
NM_006502.3(POLH):c.*2844G>A
NM_006502.3(POLH):c.*2G>T
NM_006502.3(POLH):c.*3022A>T
NM_006502.3(POLH):c.*31A>G
NM_006502.3(POLH):c.*3608A>T
NM_006502.3(POLH):c.*3630C>T
NM_006502.3(POLH):c.*3631G>A
NM_006502.3(POLH):c.*3684C>T
NM_006502.3(POLH):c.*3724G>A
NM_006502.3(POLH):c.*3828C>T
NM_006502.3(POLH):c.*3842G>A
NM_006502.3(POLH):c.*3855A>G
NM_006502.3(POLH):c.*408T>A
NM_006502.3(POLH):c.*4143G>A
NM_006502.3(POLH):c.*4159C>T
NM_006502.3(POLH):c.*4160G>A
NM_006502.3(POLH):c.*4208G>T
NM_006502.3(POLH):c.*4768G>A
NM_006502.3(POLH):c.*4785G>C
NM_006502.3(POLH):c.*4791G>C
NM_006502.3(POLH):c.*4845T>C
NM_006502.3(POLH):c.*4857G>A
NM_006502.3(POLH):c.*5020G>A
NM_006502.3(POLH):c.*5140C>T
NM_006502.3(POLH):c.*5164T>C
NM_006502.3(POLH):c.*5731C>T
NM_006502.3(POLH):c.*5786G>A
NM_006502.3(POLH):c.*599T>C
NM_006502.3(POLH):c.*720T>C
NM_006502.3(POLH):c.*884G>T
NM_006502.3(POLH):c.-252G>C
NM_006502.3(POLH):c.-94A>G
NM_006502.3(POLH):c.1000C>T (p.Arg334Trp)
NM_006502.3(POLH):c.1163C>A (p.Thr388Asn)
NM_006502.3(POLH):c.1299C>A (p.Ala433=)
NM_006502.3(POLH):c.1406C>T (p.Ala469Val)
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589
NM_006502.3(POLH):c.1568G>T (p.Ser523Ile)
NM_006502.3(POLH):c.189G>C (p.Met63Ile)
NM_006502.3(POLH):c.1953G>A (p.Met651Ile)
NM_006502.3(POLH):c.2031A>T (p.Val677=)
NM_006502.3(POLH):c.2091G>A (p.Arg697=)
NM_006502.3(POLH):c.229C>T (p.Leu77=)
NM_006502.3(POLH):c.248C>T (p.Ser83Phe)
NM_006502.3(POLH):c.251G>A (p.Arg84His)
NM_006502.3(POLH):c.25G>T (p.Val9Phe)
NM_006502.3(POLH):c.272+4A>G
NM_006502.3(POLH):c.341T>C (p.Ile114Thr)
NM_006502.3(POLH):c.34G>C (p.Val12Leu)
NM_006502.3(POLH):c.396A>G (p.Leu132=)
NM_006502.3(POLH):c.409A>G (p.Ile137Val)
NM_006502.3(POLH):c.458G>A (p.Gly153Asp)
NM_006502.3(POLH):c.525C>T (p.Leu175=)
NM_006502.3(POLH):c.709C>G (p.Leu237Val)
NM_006502.3(POLH):c.791C>T (p.Ala264Val)
NM_006502.3(POLH):c.7A>G (p.Thr3Ala)
NM_006502.3(POLH):c.815T>C (p.Ile272Thr)

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