ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genome Diagnostics Laboratory, Amsterdam University Medical Center and "benign" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center: Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 769
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_177438.3(DICER1):c.4206+11del rs58202892 0.21617
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn) rs4915691 0.20494
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=) rs12077111 0.17885
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=) rs11208644 0.17883
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_024306.5(FA2H):c.1039+16T>G rs7193407 0.07963
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
NM_003560.4(PLA2G6):c.209+16C>T rs2267368 0.07814
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_015268.4(DNAJC13):c.4157-13T>G rs78526588 0.06240
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350 0.05616
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) rs79953286 0.04591
NM_025233.7(COASY):c.1486-5C>G rs74886553 0.04354
NM_002775.5(HTRA1):c.778-20G>A rs74159166 0.04347
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03735
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) rs148871409 0.03666
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021999.5(ITM2B):c.81C>T (p.Leu27=) rs11556899 0.03334
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141 0.03327
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=) rs146562116 0.01926
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=) rs61753391 0.01829
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser) rs55825559 0.01828
NM_016516.3(VPS54):c.2228+13T>G rs183006584 0.01801
NM_016516.3(VPS54):c.2228+14T>A rs190823081 0.01801
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) rs16990018 0.01612
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_198241.3(EIF4G1):c.4395+5G>A rs16858676 0.01586
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=) rs116489157 0.01156
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682 0.01148
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001177693.2(ARHGEF28):c.840+9A>G rs143387976 0.01039
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_018713.3(SLC30A10):c.640+10G>A rs79328219 0.00931
NM_015268.4(DNAJC13):c.2292-6G>A rs35575948 0.00927
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) rs79702016 0.00855
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=) rs17552682 0.00840
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
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_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_001177693.2(ARHGEF28):c.4161+16T>C rs200381893 0.00742
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_177438.3(DICER1):c.4206+17del rs746189044 0.00689
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His) rs61748103 0.00674
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_004606.5(TAF1):c.87C>G (p.Ala29=) rs28382145 0.00668
NM_025103.4(IFT74):c.1735G>A (p.Val579Met) rs138591335 0.00667
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=) rs55993650 0.00638
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_033305.3(VPS13A):c.6379-17T>G rs373072093 0.00604
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=) rs55979991 0.00505
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=) rs35658317 0.00494
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr) rs61731474 0.00454
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_005235.3(ERBB4):c.2202A>G (p.Lys734=) rs34926094 0.00435
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001288705.3(CSF1R):c.1626+13G>A rs115895865 0.00429
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541 0.00427
NM_006262.4(PRPH):c.996+1G>A rs73112142 0.00426
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) rs114786489 0.00422
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819 0.00393
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00367
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) rs148054244 0.00353
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=) rs75536447 0.00347
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_002087.4(GRN):c.1227G>A (p.Thr409=) rs140298583 0.00326
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879 0.00320
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
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_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00305
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_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971 0.00300
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_031157.4(HNRNPA1):c.133-17A>G rs74625894 0.00293
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00277
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_001164760.2(PRKAR1B):c.810G>A (p.Ala270=) rs77809618 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000311.5(PRNP):c.204T>C (p.Pro68=) rs532493114 0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000271.5(NPC1):c.463+19A>G rs117512587 0.00252
NM_000345.4(SNCA):c.408C>T (p.Tyr136=) rs76642636 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=) rs55737335 0.00247
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln) rs34916193 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_005612.5(REST):c.274G>A (p.Gly92Arg) rs61748753 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=) rs28363488 0.00226
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607 0.00218
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000311.5(PRNP):c.372C>G (p.Gly124=) rs201423990 0.00213
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) rs541251697 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001903.5(CTNNA1):c.589-5T>C rs186236339 0.00200
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) rs150475750 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 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_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=) rs76061469 0.00166
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_016525.5(UBAP1):c.1266+6C>T rs117985789 0.00162
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00147
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=) rs143400214 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_004606.5(TAF1):c.1431A>G (p.Val477=) rs144087024 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_004736.4(XPR1):c.921G>A (p.Pro307=) rs151270778 0.00114
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_003105.6(SORL1):c.6318G>A (p.Gln2106=) rs149393026 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) rs146701946 0.00098
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=) rs141697521 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) rs1800014 0.00092
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_005032.7(PLS3):c.582+8T>G rs189475474 0.00086
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003105.6(SORL1):c.6021A>G (p.Gln2007=) rs141089496 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=) rs150055188 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000454.5(SOD1):c.72+19G>A rs201574089 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_000041.4(APOE):c.761T>A (p.Val254Glu) rs199768005 0.00050
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met) rs150899084 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) rs147128863 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001288705.3(CSF1R):c.2222-18C>T rs374818714 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_001288705.3(CSF1R):c.1510+16C>T rs200626267 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_000051.4(ATM):c.3402+17T>C rs3092825 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000271.5(NPC1):c.3477+19T>C rs375942184 0.00019
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=) rs369221405 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_001048174.2(MUTYH):c.606+14C>G rs752537118 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_018965.4(TREM2):c.*30G>A rs75272959 0.00009
NM_000455.5(STK11):c.598-7G>A rs377502057 0.00008
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=) rs748339634 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_024675.4(PALB2):c.2748+16G>A rs730881873 0.00006
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_002335.4(LRP5):c.2467C>T (p.Leu823=) rs768741253 0.00005
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=) rs765518896 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_000179.3(MSH6):c.1053C>T (p.His351=) rs28903083 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_004360.5(CDH1):c.27G>A (p.Ser9=) rs786201257 0.00001
NM_024675.4(PALB2):c.2163A>C (p.Thr721=) rs587781105 0.00001
NM_000038.6(APC):c.423-4del rs730881230
NM_000041.4(APOE):c.237-16_237-13del rs377486301
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA rs535965616
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+16del rs3837910
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_000310.4(PPT1):c.537-8del rs760997725
NM_000314.8(PTEN):c.802-4_802-3del rs34003473
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001129.5(AEBP1):c.1018+4_1018+7del rs376965157
NM_001177693.2(ARHGEF28):c.315G>T (p.Thr105=) rs191563093
NM_001288705.3(CSF1R):c.2132+5C>T rs17110908
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) rs140924076
NM_001288705.3(CSF1R):c.93C>T (p.Val31=) rs41424646
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala) rs140056980
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del) rs72555376
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002382.5(MAX):c.37-15del rs747340873
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004960.4(FUS):c.1542-5dup rs371057360
NM_004960.4(FUS):c.1542-6_1542-5del rs371057360
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006231.4(POLE):c.2865-5_2865-4del rs369732588
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014251.3(SLC25A13):c.848+8G>T rs761126981
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) rs143461130
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_017668.3(NDE1):c.*388del rs543763112
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_022089.4(ATP13A2):c.3235+44_3235+55del rs143483351
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_025000.4(DCAF17):c.322-15dup rs139655160
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_182895.5(SCARF2):c.2232= (p.Arg744=)
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs) rs5844420
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs) rs5844418
NM_198578.4(LRRK2):c.2689+20dup rs66810434
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914

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