ClinVar Miner

Variants with conflicting interpretations "likely benign" from Mayo Clinic Laboratories, Mayo Clinic and "benign" from any submitter

Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic Laboratories, Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 451
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476 0.03290
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187 0.03212
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_016292.3(TRAP1):c.2075G>A (p.Arg692His) rs2791 0.02823
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213 0.02546
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) rs11538384 0.02355
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_198076.6(COX20):c.42+9G>A rs192100928 0.02237
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile) rs11557064 0.02030
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu) rs34076756 0.01666
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758 0.01481
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_000308.4(CTSA):c.53_54del (p.Leu18fs) rs562182818 0.01435
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_153033.5(KCTD7):c.315-24C>T rs75672175 0.01333
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_198834.3(ACACA):c.2082-10_2082-8dup rs147020148 0.01218
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) rs11800305 0.01131
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705 0.01119
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys) rs35881803 0.01111
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_006294.5(UQCRB):c.195G>A (p.Arg65=) rs11558865 0.01093
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_002637.4(PHKA1):c.538-25T>C rs149014464 0.00963
NM_001040108.2(MLH3):c.3570+28A>T rs67547819 0.00949
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser) rs144317041 0.00890
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_213595.4(ISCU):c.51G>A (p.Leu17=) rs112552261 0.00804
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326 0.00753
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_000310.4(PPT1):c.536+25T>C rs16826876 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met) rs192063213 0.00672
NM_001916.5(CYC1):c.960A>C (p.Ala320=) rs35387134 0.00671
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756 0.00624
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) rs34050897 0.00595
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_006351.4(TIMM44):c.69A>G (p.Gln23=) rs35992331 0.00569
NM_020442.6(VARS2):c.423G>A (p.Met141Ile) rs141408930 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_004563.4(PCK2):c.190G>A (p.Asp64Asn) rs10132601 0.00541
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016292.3(TRAP1):c.757A>G (p.Ile253Val) rs113476582 0.00536
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_018109.4(MTPAP):c.158-9C>T rs139217290 0.00503
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_018122.5(DARS2):c.228-21_228-20insC rs367543010 0.00491
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642 0.00488
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_004563.4(PCK2):c.747C>T (p.Phe249=) rs149974910 0.00478
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=) rs118169466 0.00464
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316 0.00427
NM_016098.4(MPC1):c.30G>A (p.Ala10=) rs79498685 0.00426
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_198834.3(ACACA):c.547C>A (p.Arg183=) rs111441513 0.00408
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_015697.9(COQ2):c.30G>A (p.Arg10=) rs183012002 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg) rs73430135 0.00342
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_020442.6(VARS2):c.876G>A (p.Val292=) rs147636694 0.00332
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_006351.4(TIMM44):c.138A>G (p.Pro46=) rs145509783 0.00327
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_020686.6(ABAT):c.817-6A>G rs140106845 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000436.4(OXCT1):c.733-3T>C rs77000151 0.00315
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_002858.4(ABCD3):c.1356A>G (p.Gly452=) rs147293586 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) rs141608509 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=) rs73271536 0.00293
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492 0.00272
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_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
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_003465.3(CHIT1):c.258-6T>C rs184235051 0.00223
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
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_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_198834.3(ACACA):c.3475-10T>C rs192888791 0.00182
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_007215.4(POLG2):c.927C>T (p.His309=) rs73332195 0.00175
NM_016292.3(TRAP1):c.933T>C (p.His311=) rs142413437 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000249.4(MLH1):c.885-24T>A rs201594027 0.00164
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) rs372847627 0.00163
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_014236.4(GNPAT):c.925-16G>A rs41305723 0.00157
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=) rs142579814 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_198076.6(COX20):c.87C>T (p.Cys29=) rs140032239 0.00052
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=) rs139824241 0.00047
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
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_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=) rs149865400 0.00030
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=) rs72944827 0.00021
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_138395.4(MARS2):c.60C>T (p.Leu20=) rs201033319 0.00011
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_025150.5(TARS2):c.2052G>C (p.Arg684=) rs74443150 0.00006
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=) rs377642903 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000158.4(GBE1):c.1447-40dup rs11376242
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001080449.3(DNA2):c.1058-6del rs201474338
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_002076.4(GNS):c.253-10del rs201654719
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002541.4(OGDH):c.39A>C (p.Pro13=) rs34777281
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_003705.5(SLC25A12):c.1172-10del rs535710884
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=) rs149278617
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_015294.6(TRIM37):c.810-13dup rs367700401
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_018109.3(MTPAP):c.-26delT rs749648774
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=) rs113557846
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_198834.3(ACACA):c.4777-8dup rs149182938

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