ClinVar Miner

Variants with conflicting interpretations "likely benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "uncertain significance" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 678
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val) rs12994774 0.09975
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_000562.3(C8A):c.385G>A (p.Asp129Asn) rs150404785 0.00251
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00183
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) rs140460765 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met) rs145242123 0.00166
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00165
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00148
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) rs45478900 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup) rs564202766 0.00140
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro) rs145284139 0.00133
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) rs183950862 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln) rs201996097 0.00121
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
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_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_001735.3(C5):c.3029C>T (p.Ala1010Val) rs34362143 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247 0.00093
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) rs149968614 0.00093
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00074
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912 0.00071
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_006031.6(PCNT):c.623G>A (p.Arg208His) rs142318247 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp) rs199910189 0.00060
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 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_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=) rs200062782 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) rs104895452 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024662.3(NAT10):c.1349C>T (p.Thr450Met) rs148211973 0.00048
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_004859.4(CLTC):c.4493G>A (p.Arg1498His) rs117813867 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys) rs151329289 0.00039
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His) rs201155330 0.00037
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001324144.2(ZNF41):c.88G>A (p.Glu30Lys) rs200141273 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile) rs200123789 0.00034
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 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_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_017775.4(TTC19):c.313-4T>C rs374666326 0.00022
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 0.00020
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile) rs554675480 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) rs377164046 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg) rs368739905 0.00015
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp) rs373256534 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=) rs369739111 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00012
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln) rs368238041 0.00011
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val) rs149189246 0.00011
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_002471.4(MYH6):c.4651-3C>A rs572175190 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_003280.3(TNNC1):c.195C>T (p.Asp65=) rs370426309 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001267550.2(TTN):c.54811+10C>T rs796651993 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000455.5(STK11):c.1109-3C>T rs864622219 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.51249C>A (p.Val17083=) rs377342233 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00003
NM_213599.3(ANO5):c.1689T>C (p.Phe563=) rs527322470 0.00003
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_001105206.3(LAMA4):c.1669-6C>G rs561096787 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=) rs760724229 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=) rs761713195 0.00002
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val) rs561988641 0.00002
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val) rs750530127 0.00002
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422 0.00001
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn) rs398122756 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys) rs528535076 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) rs750855113 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_000038.6(APC):c.423-4del rs730881230
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser) rs765924757
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu) rs1064793402
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp) rs1064793571
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser) rs80358930
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys) rs876661273
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001261826.3(AP3D1):c.2587GAGAAG[1] (p.863EK[1]) rs756601658
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001846.4(COL4A2):c.3563-4G>C rs562701263
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del) rs60216939
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) rs112307877
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_019040.5(ELP4):c.17C>T (p.Thr6Ile) rs760224399
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=) rs781929758

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