ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
882 1504 0 278 238 0 15 530

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.

pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0 0
uncertain significance 3 12 0 50 5
likely benign 0 0 155 0 120
benign 0 0 28 157 0

All variants with conflicting interpretations #

Total variants: 530
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.6(APC):c.2640C>T (p.Ile880=) rs200184105
NM_000038.6(APC):c.2778T>C (p.Ser926=) rs371526966
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr) rs143674116
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1254A>C (p.Ser418=) rs1052409595
NM_000059.3(BRCA2):c.1272A>G (p.Ser424=) rs587780531
NM_000059.3(BRCA2):c.1447G>C (p.Ala483Pro) rs80358432
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.2133C>T (p.Cys711=) rs535547513
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2490C>T (p.Asn830=) rs56331088
NM_000059.3(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) rs367921107
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) rs80358541
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479
NM_000059.3(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg) rs1060502496
NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) rs4986856
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.4320A>G (p.Lys1440=) rs769535925
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.4977C>T (p.Ser1659=) rs45484897
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5278T>G (p.Ser1760Ala) rs28897735
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5529A>C (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5969A>C (p.Asp1990Ala) rs148618542
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6423T>G (p.Gly2141=) rs780721021
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881
NM_000059.3(BRCA2):c.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.6915G>A (p.Lys2305=) rs1555285156
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) rs763727386
NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955
NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982
NM_000059.3(BRCA2):c.7805+8A>G rs81002847
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8352G>T (p.Arg2784=) rs747664806
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423
NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) rs80359198
NM_000059.3(BRCA2):c.939T>C (p.Ser313=) rs1593891536
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.987G>A (p.Arg329=) rs561002197
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del) rs80359442
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.4(BRCA2):c.7436-4A>G rs81002904
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923
NM_000077.4(CDKN2A):c.-2G>A rs191394143
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) rs587782331
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1509C>T (p.Ser503=) rs545020313
NM_000179.2(MSH6):c.1776A>T (p.Val592=) rs56132616
NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) rs202127474
NM_000179.2(MSH6):c.2561_2562delinsTT (p.Lys854Ile) rs587780673
NM_000179.2(MSH6):c.260+7G>A rs774479750
NM_000179.2(MSH6):c.2904C>G (p.Val968=) rs150683226
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109
NM_000179.2(MSH6):c.3960A>G (p.Ala1320=) rs373425206
NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) rs544222338
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4002-10T>A rs545466048
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.24T>A (p.Ile8=) rs748406142
NM_000249.3(MLH1):c.69A>G (p.Glu23=) rs63750555
NM_000249.3(MLH1):c.974G>A (p.Arg325Gln) rs63750268
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1387-4G>C rs376796243
NM_000251.2(MSH2):c.1560A>G (p.Gly520=) rs63750820
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.211+8C>T rs267607916
NM_000251.2(MSH2):c.2211-6C>A rs267608003
NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.2(MSH2):c.642A>G (p.Arg214=) rs768931909
NM_000251.2(MSH2):c.972G>A (p.Gln324=) rs63750505
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.321T>C (p.Asp107=) rs372876243
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000455.4(STK11):c.-2G>T rs774072752
NM_000455.4(STK11):c.1108+3G>A rs755746417
NM_000455.4(STK11):c.1109-4C>T rs1407794756
NM_000455.4(STK11):c.1190C>T (p.Ala397Val) rs558040549
NM_000455.4(STK11):c.1284G>A (p.Ser428=) rs369097329
NM_000455.4(STK11):c.237C>T (p.Ile79=) rs751859508
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.464+10C>T rs587782445
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.594C>T (p.Ala198=) rs772940660
NM_000455.4(STK11):c.597+8C>T rs565387911
NM_000455.4(STK11):c.598-8C>T rs373610101
NM_000455.4(STK11):c.735-10C>T rs553975112
NM_000455.4(STK11):c.735C>G (p.Leu245=) rs773147894
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.4(BARD1):c.348T>C (p.His116=) rs139934362
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000518.4(HBB):c.-82C>T rs34500389
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-75G>C rs63750400
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573
NM_000518.5(HBB):c.57G>A (p.Val19=) rs1554918177
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522
NM_000546.5(TP53):c.102C>G (p.Pro34=) rs11575998
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.217G>A (p.Val73Met) rs587782423
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.464C>G (p.Thr155Ser) rs786202752
NM_000546.5(TP53):c.510G>A (p.Thr170=) rs757544615
NM_000546.5(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.920-5C>T rs34361146
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001126049.2(KLLN):c.-840G>A rs563841270
NM_001167617.2(MLH1):c.-426_-425delinsTG rs63749994
NM_002485.4(NBN):c.1035C>T (p.Gly345=) rs146605798
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1317A>G (p.Ile439Met) rs28538230
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.441C>T (p.Cys147=) rs137857529
NM_002485.4(NBN):c.584+9T>C rs746913991
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974
NM_002691.4(POLD1):c.1138-8A>G rs41544624
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831
NM_002691.4(POLD1):c.2007-4G>A rs202035484
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr) rs753865441
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986
NM_002691.4(POLD1):c.841-10A>G rs140160345
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_002878.3(RAD51D):c.196G>A (p.Val66Met) rs56026142
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.481-7G>A rs145832514
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) rs138969595
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.231-9C>T rs763313220
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757
NM_004360.5(CDH1):c.1530C>T (p.Ala510=) rs1597898262
NM_004360.5(CDH1):c.1711+9G>C rs368770384
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025
NM_004360.5(CDH1):c.2103C>T (p.Val701=) rs730881656
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1905C>T (p.Ile635=) rs145203544
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.3763T>C (p.Leu1255=) rs745838504
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.5075-9A>T rs80358059
NM_007294.3(BRCA1):c.5332+7G>T rs773655919
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.3(BRCA1):c.547+8T>G rs762224894
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127
NM_007294.4(BRCA1):c.301+7G>A rs80358113
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5124G>A (p.Ala1708=) rs1057520432
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_012222.2(MUTYH):c.1592G>A (p.Arg531Gln) rs3219497
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1794G>A (p.Leu598=) rs182494675
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.1941T>C (p.His647=) rs745467835
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2616G>T (p.Val872=) rs1567215519
NM_024675.3(PALB2):c.2964A>G (p.Gln988=) rs777244673
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2996+9del rs769414858
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1935+7T>C rs201024366
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) rs550707862
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.1629-3T>C rs587780828
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.