ClinVar Miner

List of variants in gene POLH studied for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP
NM_006502.2(POLH):c.*1055A>T rs115129476
NM_006502.2(POLH):c.*1091T>A rs886061444
NM_006502.2(POLH):c.*1103A>G rs886061445
NM_006502.2(POLH):c.*1110A>T rs112725367
NM_006502.2(POLH):c.*1129A>T rs28877272
NM_006502.2(POLH):c.*1139C>T rs886061446
NM_006502.2(POLH):c.*1179G>A rs9333561
NM_006502.2(POLH):c.*1201C>T rs9333562
NM_006502.2(POLH):c.*1219A>T rs886061447
NM_006502.2(POLH):c.*1364T>A rs9333565
NM_006502.2(POLH):c.*1549C>T rs186059509
NM_006502.2(POLH):c.*1563dupA rs201071335
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.*1858A>G rs9472090
NM_006502.2(POLH):c.*1916C>T rs772988854
NM_006502.2(POLH):c.*1940G>A rs527613993
NM_006502.2(POLH):c.*1959A>C rs553213267
NM_006502.2(POLH):c.*1984A>G rs886061455
NM_006502.2(POLH):c.*2042_*2043dupAA rs368089629
NM_006502.2(POLH):c.*2043dupA 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.*2269C>T rs140288120
NM_006502.2(POLH):c.*2280A>C rs886061458
NM_006502.2(POLH):c.*2441T>C rs182931718
NM_006502.2(POLH):c.*2489C>T rs6922830
NM_006502.2(POLH):c.*2513A>T rs111841811
NM_006502.2(POLH):c.*2600C>T rs769907355
NM_006502.2(POLH):c.*2659T>C rs9462906
NM_006502.2(POLH):c.*2692G>A rs886061459
NM_006502.2(POLH):c.*2725G>A rs553948056
NM_006502.2(POLH):c.*2812_*2820delGTAATCCCAinsCC rs886061460
NM_006502.2(POLH):c.*2901T>C rs187347958
NM_006502.2(POLH):c.*290C>T rs6899628
NM_006502.2(POLH):c.*2975C>A rs112207298
NM_006502.2(POLH):c.*3051_*3052delCA rs568828810
NM_006502.2(POLH):c.*3067A>T rs886061462
NM_006502.2(POLH):c.*3088G>A rs373844625
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.*371A>G rs59061501
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.*3847G>A rs145612937
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.*4393_*4397delTATTT rs565512423
NM_006502.2(POLH):c.*4413_*4414dupGG rs55760315
NM_006502.2(POLH):c.*4414delG rs55760315
NM_006502.2(POLH):c.*4414dupG rs55760315
NM_006502.2(POLH):c.*4511T>C rs572839059
NM_006502.2(POLH):c.*4531_*4532delAA 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.*4806delT rs886061469
NM_006502.2(POLH):c.*4807delC rs886061470
NM_006502.2(POLH):c.*4837dupA rs60046548
NM_006502.2(POLH):c.*4928T>C rs556045922
NM_006502.2(POLH):c.*5007T>A rs886061472
NM_006502.2(POLH):c.*5075_*5076delAG rs886061473
NM_006502.2(POLH):c.*50A>G rs1064260
NM_006502.2(POLH):c.*5142_*5146delATACA rs886061474
NM_006502.2(POLH):c.*5199A>G rs886061475
NM_006502.2(POLH):c.*5349T>C rs886061476
NM_006502.2(POLH):c.*537C>T rs55704248
NM_006502.2(POLH):c.*5630G>A rs116106873
NM_006502.2(POLH):c.*5697G>A rs113410952
NM_006502.2(POLH):c.*5713T>C rs75658777
NM_006502.2(POLH):c.*639G>A rs9333557
NM_006502.2(POLH):c.*671C>T rs886061438
NM_006502.2(POLH):c.*693C>T rs9333558
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.*952C>T rs1141338
NM_006502.2(POLH):c.*954C>T rs886061442
NM_006502.2(POLH):c.*985G>A rs886061443
NM_006502.2(POLH):c.*998A>G rs550215250
NM_006502.2(POLH):c.-117C>T rs56300149
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
NM_006502.2(POLH):c.-5+3A>G rs9357415
NM_006502.2(POLH):c.-62C>T rs537011297
NM_006502.2(POLH):c.-87delC rs886061432
NM_006502.2(POLH):c.-98A>C rs189835199
NM_006502.2(POLH):c.1074+7T>G rs765856970
NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) rs886061433
NM_006502.2(POLH):c.1075-?_1244+?del
NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.2(POLH):c.1253_1255delCTC (p.Pro418del) rs747834463
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.1434G>A (p.Thr478=) rs3734690
NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) rs759840056
NM_006502.2(POLH):c.149dup (p.Ser51Glufs)
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.1661delA (p.Asn555Thrfs) rs886039225
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.1783A>G (p.Met595Val) rs9333555
NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) rs886061437
NM_006502.2(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.2(POLH):c.1939A>T (p.Met647Leu) rs6941583
NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) rs151095678
NM_006502.2(POLH):c.2028C>T (p.Ala676=) rs140971385
NM_006502.2(POLH):c.207delG (p.Lys70Serfs)
NM_006502.2(POLH):c.225_227delTCT (p.Leu77del)
NM_006502.2(POLH):c.232G>A (p.Ala78Thr) rs372613817
NM_006502.2(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001
NM_006502.2(POLH):c.490delG (p.Glu164Argfs)
NM_006502.2(POLH):c.491-4T>G rs185508862
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006502.2(POLH):c.660+10A>C rs56056074
NM_006502.2(POLH):c.698A>G (p.Asn233Ser) rs61756403
NM_006502.2(POLH):c.725C>G (p.Ser242Ter) rs745778317
NM_006502.2(POLH):c.738C>T (p.Leu246=) rs145530456
NM_006502.2(POLH):c.764+1G>A rs772570523
NM_006502.2(POLH):c.887C>T (p.Ser296Phe) rs200149644
NM_006502.2(POLH):c.907C>T (p.Arg303Ter) rs759607901
NM_006502.2(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_006502.2(POLH):c.986C>T (p.Thr329Ile) rs35675573
POLH, 104-BP DEL, NT661
POLH, 13-BP DEL, NT343
POLH, 2-BP DEL, NT770
POLH, 4-BP DEL, NT289
POLH, DEL AND TRP297TER

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