ClinVar Miner

Variants with conflicting interpretations "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1008
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile) rs111971143 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) rs187725533 0.00364
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000517.6(HBA2):c.300+64A>G rs111264741 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_002335.4(LRP5):c.1801+675A>G rs555106014 0.00188
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000558.5(HBA1):c.95+38C>T rs556086584 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) rs149678681 0.00147
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_001355436.2(SPTB):c.6345+19T>A rs151232626 0.00113
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp) rs185397176 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00103
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) rs146529487 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=) rs141328606 0.00092
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794 0.00084
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_177438.3(DICER1):c.59C>T (p.Ala20Val) rs147660793 0.00070
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 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_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met) rs199752762 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) rs61742059 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met) rs369319123 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu) rs149330066 0.00041
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00040
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000517.6(HBA2):c.95+39C>G rs1025977498 0.00040
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=) rs141414055 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00036
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=) rs370710857 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001042492.3(NF1):c.5269-9A>G rs544515671 0.00021
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_004082.5(DCTN1):c.837G>A (p.Ala279=) rs72466489 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) rs145571020 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn) rs182395524 0.00014
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775 0.00012
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) rs371421459 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_020975.6(RET):c.1522+35C>T rs377130948 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu) rs570744198 0.00010
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00010
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=) rs140170877 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00009
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.24227-16G>A rs377340591 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys) rs370474301 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=) rs377699966 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002755.4(MAP2K1):c.1068+18G>A rs369137482 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) rs397507793 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His) rs992473797 0.00004
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln) rs377011269 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val) rs778913256 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830 0.00003
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val) rs773773071 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_017617.5(NOTCH1):c.3510+3G>A rs372739350 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro) rs281864817 0.00002
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004082.5(DCTN1):c.3699+16G>A rs747490958 0.00002
NM_005548.3(KARS1):c.1695+4C>T rs747781002 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000251.3(MSH2):c.2006-4G>A rs369853630 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.5(HBA1):c.62A>C (p.His21Pro) rs33943087 0.00001
NM_000558.5(HBA1):c.63C>A (p.His21Gln) rs281864502 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=) rs776413354 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004655.4(AXIN2):c.2405+7G>A rs373593841 0.00001
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) rs1248541873 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.593+9A>G rs80358133 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=) rs786202158
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del) rs80359442
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6841+8T>G rs2137531137
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000435.3(NOTCH3):c.197+8C>T
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.744-34_744-31del rs768226435
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu) rs281864853
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp) rs281864809
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro) rs281860609
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys) rs63750367
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg) rs63750294
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.10C>G (p.Leu4Val) rs34126315
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.4(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001035.3(RYR2):c.10838+3C>T rs1417807379
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001498.4(GCLC):c.-29AGG[4] rs3830798
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
NM_001613.4(ACTA2):c.399C>G (p.Ala133=) rs781132665
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.301+11A>C rs1555596621
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024675.4(PALB2):c.212-10del rs766487430
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_206933.4(USH2A):c.9258+3T>C rs1553268427

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