ClinVar Miner

Variants from True Health Diagnostics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from True Health Diagnostics: Collection method of the submission from True Health Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
16 172 0 293 111 2 5 401

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
True Health Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign established risk allele
pathogenic 0 4 2 0 0 1
likely pathogenic 2 0 2 0 0 0
uncertain significance 0 1 0 82 23 0
likely benign 0 0 26 0 274 0
benign 0 0 1 13 0 0
risk factor 1 1 1 0 0 1

Submitter to submitter summary #

Total submitters: 22
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Ambry Genetics 0 266 0 194 85 2 4 285
Sema4, Sema4 0 136 0 160 41 1 1 203
Color Diagnostics, LLC DBA Color Health 0 228 0 155 41 1 1 198
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 70 0 75 13 1 0 89
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 3 0 41 0 0 0 41
Labcorp Genetics (formerly Invitae), Labcorp 0 13 0 25 10 0 0 35
Vantari Genetics 0 25 0 17 3 0 0 20
Counsyl 0 16 0 10 2 0 0 12
GeneKor MSA 0 14 0 3 5 0 1 9
Mendelics 0 13 0 0 6 0 0 6
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 0 3 0 3 1 0 0 4
Genome-Nilou Lab 0 1 0 3 0 0 0 3
GeneDx 0 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 1 0 1 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 9 0 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 10 0 0 1 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 0 0 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 1 0 0 1
Myriad Genetics, Inc. 0 4 0 0 1 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 401
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_004360.5(CDH1):c.1896C>T (p.His632=) rs33969373 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_004360.5(CDH1):c.933C>G (p.Leu311=) rs35539711 0.00974
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00636
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) rs74531854 0.00220
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00004
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) rs530464947 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578 0.00002
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_002691.4(POLD1):c.2136G>A (p.Pro712=) rs765207547 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp) rs752015385 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.187G>A (p.Val63Met) rs772216832 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_002691.4(POLD1):c.1869G>T (p.Arg623=) rs748380365 0.00001
NM_002691.4(POLD1):c.327G>C (p.Gln109His) rs750260438 0.00001
NM_002691.4(POLD1):c.429C>T (p.Gly143=) rs372244044 0.00001
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala) rs374398608 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_000038.6(APC):c.2719G>A (p.Gly907Arg) rs771458366
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.720C>T (p.Leu240=) rs1254593530
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.3392G>A (p.Arg1131Lys) rs1555283214
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr) rs587781476
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.399A>G (p.Gly133=) rs1559521083
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr) rs878853826
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002691.4(POLD1):c.1716G>T (p.Val572=) rs1568628387
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211

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