ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System and "likely benign" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 650
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln) rs11969612 0.05921
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_005612.5(REST):c.2443C>T (p.Pro815Ser) rs114282228 0.01389
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=) rs34445293 0.00606
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs) rs546221341 0.00558
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_004462.5(FDFT1):c.100-232G>C rs181750463 0.00465
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr) rs58472472 0.00405
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674 0.00373
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_198407.2(GHSR):c.531C>A (p.Pro177=) rs4988509 0.00334
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_005199.5(CHRNG):c.714G>T (p.Gln238His) rs17838626 0.00274
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=) rs150315143 0.00262
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile) rs200202857 0.00252
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_020921.4(NIN):c.2665G>C (p.Val889Leu) rs78251482 0.00231
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974 0.00213
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly) rs188733415 0.00208
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) rs147111211 0.00202
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly) rs142318812 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val) rs61751494 0.00188
NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr) rs143921323 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) rs147091256 0.00185
NM_001164508.2(NEB):c.18579+6T>C rs116189169 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) rs61996318 0.00175
NM_002253.4(KDR):c.1384T>G (p.Leu462Val) rs56286620 0.00175
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445 0.00173
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala) rs191928354 0.00170
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_000567.3(CRP):c.176C>T (p.Thr59Met) rs77832441 0.00160
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) rs34425379 0.00158
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_000789.4(ACE):c.209C>T (p.Ala70Val) rs372565955 0.00152
NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met) rs115302912 0.00151
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg) rs55716939 0.00150
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn) rs147588666 0.00147
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069 0.00143
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe) rs183490100 0.00142
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser) rs147963396 0.00135
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_000305.3(PON2):c.358A>G (p.Ile120Val) rs116397473 0.00129
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln) rs201996097 0.00121
NM_006225.4(PLCD1):c.35-4000A>G rs143961610 0.00117
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_000044.6(AR):c.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser) rs142851621 0.00112
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val) rs150196545 0.00105
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser) rs201145204 0.00103
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00103
NM_005245.4(FAT1):c.12622C>T (p.Arg4208Trp) rs201960763 0.00103
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_173602.3(DIP2B):c.2374A>G (p.Ile792Val) rs11169525 0.00097
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg) rs5041 0.00095
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_004407.4(DMP1):c.263C>T (p.Ala88Val) rs144773084 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu) rs141077206 0.00092
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val) rs147612968 0.00091
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly) rs555411841 0.00086
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00085
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) rs201026246 0.00072
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly) rs139949788 0.00068
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn) rs147866964 0.00067
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val) rs61764068 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr) rs144513268 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506 0.00061
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn) rs139368531 0.00061
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp) rs199910189 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_004706.4(ARHGEF1):c.-17C>T rs545895111 0.00056
NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys) rs200142054 0.00056
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_002585.4(PBX1):c.92G>T (p.Gly31Val) rs192264696 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys) rs138324984 0.00051
NM_004933.3(CDH15):c.365C>T (p.Ala122Val) rs121434541 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) rs6405 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00049
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) rs114595447 0.00046
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu) rs56400844 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_000375.3(UROS):c.22G>A (p.Asp8Asn) rs558929395 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_177438.3(DICER1):c.4206+11_4206+13del rs752585711 0.00043
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu) rs138266625 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp) rs151245897 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser) rs201638257 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_182476.3(COQ6):c.449A>G (p.His150Arg) rs144880038 0.00039
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln) rs769643348 0.00038
NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu) rs766660828 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp) rs373862041 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro) rs146202702 0.00036
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354 0.00035
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=) rs778572930 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His) rs375694189 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr) rs200414851 0.00031
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val) rs199891537 0.00030
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met) rs200578021 0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile) rs61754626 0.00026
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu) rs199535472 0.00026
NM_001077653.2(TBX20):c.414G>A (p.Ser138=) rs144597480 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly) rs142973956 0.00024
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln) rs200998739 0.00023
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His) rs574654024 0.00023
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr) rs145738101 0.00021
NM_000330.4(RS1):c.264G>C (p.Gln88His) rs201680258 0.00021
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) rs142266106 0.00021
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) rs140639242 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840 0.00020
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr) rs150207068 0.00019
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile) rs139167350 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln) rs139257219 0.00018
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_000179.3(MSH6):c.867C>A (p.Gly289=) rs267608047 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala) rs563764064 0.00017
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala) rs142978180 0.00017
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val) rs199776454 0.00017
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=) rs185396488 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) rs199475953 0.00015
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000249.4(MLH1):c.2001C>T (p.Asp667=) rs63750014 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144 0.00014
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000297.4(PKD2):c.9C>T (p.Asn3=) rs773343245 0.00012
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718 0.00012
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala) rs150949949 0.00012
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg) rs371056638 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln) rs373682717 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_004625.4(WNT7A):c.470G>A (p.Arg157His) rs199592697 0.00011
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg) rs189123186 0.00011
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg) rs190628299 0.00011
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg) rs370072584 0.00011
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys) rs372301151 0.00011
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln) rs759304994 0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His) rs147852216 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu) rs61742337 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys) rs372400636 0.00010
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser) rs563356062 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro) rs140555177 0.00009
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_000123.4(ERCC5):c.48G>A (p.Gln16=) rs202038276 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg) rs144259142 0.00007
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp) rs370386680 0.00006
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val) rs768733110 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val) rs201531372 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe) rs201222071 0.00005
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser) rs376423805 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_000038.6(APC):c.1549-13A>T rs587781267 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr) rs748488719 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys) rs141454457 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln) rs148506076 0.00004
NM_002878.4(RAD51D):c.145-13G>T rs760867838 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4676-8C>G rs80358021 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_022114.4(PRDM16):c.171C>T (p.Ser57=) rs369648897 0.00004
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala) rs553840038 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) rs766715445 0.00004
NM_000038.6(APC):c.1557A>G (p.Leu519=) rs765537673 0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.3173-10C>T rs587780559 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000384.3(APOB):c.571A>G (p.Thr191Ala) rs1318040190 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_001267550.2(TTN):c.15659A>G (p.Asn5220Ser) rs565670799 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala) rs748545482 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln) rs752117651 0.00003
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val) rs769732230 0.00003
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys) rs771864692 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys) rs535441567 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys) rs549182297 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=) rs773147894 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln) rs747436946 0.00002
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser) rs767643312 0.00002
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser) rs765994795 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_007194.4(CHEK2):c.*5C>T rs587781367 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=) rs748981650 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly) rs139536688 0.00002
NM_000038.6(APC):c.1596A>G (p.Gln532=) rs1331131200 0.00001
NM_000038.6(APC):c.5304G>A (p.Lys1768=) rs863224285 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp) rs1189017197 0.00001
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile) rs557797952 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000249.4(MLH1):c.1401C>T (p.Ser467=) rs587778910 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000249.4(MLH1):c.30G>T (p.Arg10=) rs876660759 0.00001
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys) rs371898195 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser) rs1167470350 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met) rs540169523 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu) rs375573917 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys) rs782191011 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002878.4(RAD51D):c.144+3G>T rs761057565 0.00001
NM_004357.5(CD151):c.379A>C (p.Lys127Gln) rs559057238 0.00001
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) rs796052672 0.00001
NM_005670.4(EPM2A):c.822C>T (p.Thr274=) rs763812238 0.00001
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946 0.00001
NM_007294.4(BRCA1):c.212+4T>C rs398122652 0.00001
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=) rs556684572 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser) rs863224760 0.00001
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256 0.00001
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=) rs756281673 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_024675.4(PALB2):c.1110G>A (p.Gln370=) rs756002989 0.00001
NM_173651.4(FSIP2):c.7540T>C (p.Phe2514Leu) rs551594235 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.532-14_532-12del rs765893314
NM_000038.6(APC):c.5496T>C (p.Asp1832=) rs1561600562
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.6095+6T>C rs1057522992
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu) rs864622352
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val) rs431825310
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys) rs80358691
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=) rs1555283875
NM_000059.4(BRCA2):c.631+7A>G rs431825339
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000059.4(BRCA2):c.7618-21G>T rs376957350
NM_000059.4(BRCA2):c.7618-6G>T rs1057520251
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000082.4(ERCC8):c.550+15T>C rs1748965740
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000179.3(MSH6):c.3456A>G (p.Val1152=) rs750998416
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu) rs148770294
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_001005361.3(DNM2):c.1782-7C>A rs200843089
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001048174.2(MUTYH):c.116-55C>T rs1316542179
NM_001104631.2(PDE4D):c.240_254del (p.Leu81_Pro85del) rs755378627
NM_001128840.3(CACNA1D):c.2751+14G>T rs748663117
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu) rs577616504
NM_001329.4(CTBP2):c.1218C>A (p.Ile406=) rs796230948
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu) rs561515655
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) rs121913369
NM_004360.5(CDH1):c.49-9C>A rs1555509752
NM_004360.5(CDH1):c.69G>A (p.Gln23=) rs786202657
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) rs114752661
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.2712A>G (p.Glu904=) rs1057522242
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.5332+20C>A rs1057521961
NM_007294.4(BRCA1):c.669G>A (p.Lys223=) rs1131692066
NM_007294.4(BRCA1):c.66A>G (p.Leu22=) rs786202533
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=) rs368560676
NM_014989.7(RIMS1):c.1679-20587G>A rs181193740
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe) rs140943787
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser) rs61886330
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu) rs370439294
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=) rs758546069
NM_033343.4(LHX4):c.724_726del (p.Lys242del) rs771109452
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser) rs371262198
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=) rs768782125
NM_198681.4(PLEKHG5):c.-120C>T rs201669114
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
Single allele

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