ClinVar Miner

Variants with conflicting interpretations "likely benign" from Eurofins NTD LLC (GA) and "benign" from PreventionGenetics, part of Exact Sciences

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 341
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
UGT1A1*6 rs4148323 0.00891
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_000843.4(GRM6):c.1953C>T (p.Ala651=) rs62638620 0.00587
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu) rs74591375 0.00539
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902 0.00507
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) rs62427038 0.00474
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) rs41280330 0.00428
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_006486.3(FBLN1):c.1441+9G>A rs142798380 0.00355
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_144709.4(PUS10):c.-16+254C>G rs147461642 0.00345
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_001701.4(BAAT):c.409G>A (p.Val137Ile) rs144591246 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln) rs202231425 0.00313
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316 0.00306
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635 0.00287
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_182894.3(VSX2):c.522C>T (p.Asp174=) rs78509400 0.00273
NM_004625.4(WNT7A):c.75C>T (p.Gly25=) rs35103037 0.00272
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_000542.5(SFTPB):c.526C>T (p.Leu176Phe) rs3024801 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_025237.3(SOST):c.-10G>A rs190743758 0.00262
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000900.5(MGP):c.115A>C (p.Asn39His) rs145210821 0.00260
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084 0.00260
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_170699.3(GPBAR1):c.458C>T (p.Ala153Val) rs138439621 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_002206.3(ITGA7):c.3058-6C>T rs201070308 0.00252
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_001128228.3(TPRN):c.1748A>G (p.Lys583Arg) rs139459217 0.00247
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_002979.5(SCP2):c.687T>C (p.Asp229=) rs80033039 0.00240
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00238
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001378609.3(OTOGL):c.3427A>G (p.Ile1143Val) rs117462138 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_182914.3(SYNE2):c.6880-5C>T rs187173455 0.00235
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_005957.5(MTHFR):c.236+3A>G rs1413355 0.00233
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_001017420.3(ESCO2):c.506G>A (p.Arg169Gln) rs1052492 0.00232
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) rs202095663 0.00230
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_004393.6(DAG1):c.2036G>A (p.Arg679His) rs113904914 0.00227
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=) rs200018782 0.00226
NM_182914.3(SYNE2):c.16095-10G>A rs139126909 0.00225
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_000618.5(IGF1):c.156G>A (p.Thr52=) rs3729846 0.00222
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) rs139187399 0.00222
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_004465.2(FGF10):c.97G>A (p.Val33Ile) rs145373611 0.00211
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00206
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) rs144412275 0.00205
NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) rs143004930 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001457.4(FLNB):c.1472T>C (p.Met491Thr) rs147575358 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_007317.3(KIF22):c.1780G>A (p.Asp594Asn) rs146561986 0.00197
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_201525.4(ADGRG1):c.1017+8G>A rs186479054 0.00196
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) rs61749465 0.00191
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_004839.4(HOMER2):c.363C>T (p.Ile121=) rs11629943 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) rs146398746 0.00180
NM_198239.2(CCN6):c.533A>T (p.Asn178Ile) rs35374349 0.00180
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_182943.3(PLOD2):c.-4G>A rs79161810 0.00173
NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) rs41290704 0.00167
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=) rs145197227 0.00156
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp) rs201146062 0.00135
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) rs201644674 0.00099
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=) rs140584234 0.00094
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_058246.4(DNAJB6):c.429G>C (p.Ala143=) rs150709673 0.00085
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00084
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823 0.00073
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_001292063.2(OTOG):c.4627G>A (p.Ala1543Thr) rs545740473 0.00067
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) rs61755429 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_170699.3(GPBAR1):c.903G>A (p.Gly301=) rs200857397 0.00054
NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser) rs147014136 0.00051
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=) rs74748737 0.00041
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met) rs183134138 0.00029
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg) rs200925249 0.00021
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu) rs140090745 0.00019
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 0.00014
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) rs186950965 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_003846.3(PEX11B):c.458G>A (p.Cys153Tyr) rs201973197 0.00004
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met) rs199996504 0.00004
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_004006.3(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) rs145077205
NM_004998.4(MYO1E):c.333-12_333-9del rs200881397
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_170699.3(GPBAR1):c.157TTC[1] (p.Phe54del) rs767819043
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala) rs200954103
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408

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