ClinVar Miner

Variants with conflicting interpretations "benign" from PreventionGenetics, part of Exact Sciences and "uncertain significance" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 847
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HGVS dbSNP gnomAD frequency
NM_020451.2(SELENON):c.-42T>C rs12121707 0.99972
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_016816.4(OAS1):c.484G>A (p.Gly162Ser) rs1131454 0.47874
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_007202.4(AKAP10):c.1936A>G (p.Ile646Val) rs203462 0.43766
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_000312.4(PROC):c.768T>C (p.Asp256=) rs5937 0.27234
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000129.4(F13A1):c.1694C>T (p.Pro565Leu) rs5982 0.18893
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_004483.5(GCSH):c.-4G>T rs779613867 0.09245
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983 0.03160
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
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_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=) rs41299210 0.01449
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_005612.5(REST):c.2443C>T (p.Pro815Ser) rs114282228 0.01389
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_006885.4(ZFHX3):c.6156G>A (p.Pro2052=) rs148383343 0.01359
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_079834.4(SCAMP4):c.-41-2384C>T rs139117131 0.01214
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 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_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
UGT1A1*6 rs4148323 0.00891
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_024656.4(COLGALT1):c.273C>T (p.Asp91=) rs118174667 0.00814
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_000231.3(SGCG):c.*10G>A rs139369964 0.00794
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_020921.4(NIN):c.5188T>C (p.Leu1730=) rs61741547 0.00749
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_020451.3(SELENON):c.-14C>A rs867555591 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825 0.00636
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn) rs144245019 0.00636
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_198576.4(AGRN):c.67G>C (p.Val23Leu) rs201073369 0.00583
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000070.3(CAPN3):c.2381-12A>G rs73402734 0.00578
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr) rs61752339 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_006015.6(ARID1A):c.358C>T (p.Pro120Ser) rs571264557 0.00572
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) rs147724093 0.00570
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=) rs149148763 0.00557
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_001256715.2(DNAAF3):c.323-4del rs201986299 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) rs5346 0.00500
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272 0.00493
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349 0.00481
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_000638.4(VTN):c.377A>T (p.Glu126Val) rs112887300 0.00458
NM_001166114.2(PNPLA6):c.4073C>T (p.Pro1358Leu) rs116012798 0.00451
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser) rs61751120 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_007027.4(TOPBP1):c.3371+9C>T rs138529143 0.00411
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=) rs34704118 0.00406
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000515.5(GH1):c.150C>A (p.Ala50=) rs61735359 0.00398
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu) rs6413500 0.00374
NM_000145.4(FSHR):c.485G>A (p.Arg162Lys) rs111883853 0.00372
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe) rs147096750 0.00367
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) rs5350 0.00348
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp) rs138019311 0.00333
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu) rs149403824 0.00333
NM_001372574.1(ATXN2):c.2526A>G (p.Val842=) rs140262591 0.00332
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_139281.3(WDR36):c.1177G>A (p.Ala393Thr) rs35703638 0.00326
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp) rs138845109 0.00321
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala) rs144009130 0.00316
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His) rs76025186 0.00305
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_004285.4(H6PD):c.635C>T (p.Ala212Val) rs143104068 0.00293
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_181789.4(GLDN):c.269C>T (p.Ala90Val) rs186935606 0.00287
NM_003803.4(MYOM1):c.2384+4A>T rs73373171 0.00286
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) rs146277144 0.00285
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00273
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_198576.4(AGRN):c.800C>T (p.Thr267Met) rs566673314 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg) rs142733791 0.00263
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00263
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_173651.4(FSIP2):c.8947G>A (p.Gly2983Ser) rs142675481 0.00257
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val) rs143471549 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_000552.5(VWF):c.1596C>T (p.Gly532=) rs111240043 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln) rs142043309 0.00251
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp) rs199954296 0.00249
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln) rs138844366 0.00248
NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu) rs200098419 0.00247
NM_003282.4(TNNI2):c.354G>A (p.Ser118=) rs141400587 0.00247
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392 0.00246
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln) rs200390354 0.00245
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_001349.4(DARS1):c.590G>A (p.Arg197His) rs141522501 0.00244
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) rs57325543 0.00242
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802 0.00241
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=) rs113689741 0.00240
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00236
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp) rs34324145 0.00232
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_080424.4(SP110):c.583+8A>G rs114743173 0.00224
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_017763.6(RNF43):c.380G>A (p.Arg127Gln) rs35219874 0.00220
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) rs144866271 0.00220
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser) rs114698062 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_003244.4(TGIF1):c.16+1499T>C rs148390122 0.00215
NM_001142800.2(EYS):c.788A>G (p.His263Arg) rs139517572 0.00213
NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg) rs116070021 0.00212
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001388453.1(QRICH2):c.4705C>T (p.Arg1569Cys) rs146485823 0.00210
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys) rs74438152 0.00210
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr) rs35068710 0.00210
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val) rs114838275 0.00207
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
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_019112.4(ABCA7):c.5570+5G>C rs200538373 0.00203
NM_006757.4(TNNT3):c.107-6G>A rs200739738 0.00202
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00186
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu) rs114015611 0.00177
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile) rs116040996 0.00175
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) rs144086377 0.00167
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521 0.00157
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser) rs146196839 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00149
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) rs187273709 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_144997.7(FLCN):c.871+16T>A rs116643153 0.00146
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_001378477.3(NYX):c.1188G>A (p.Pro396=) rs139558261 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_017668.3(NDE1):c.723G>T (p.Gly241=) rs570994490 0.00133
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro) rs143257313 0.00131
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_005259.3(MSTN):c.263G>A (p.Arg88Gln) rs138343163 0.00129
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu) rs149620809 0.00128
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe) rs149469954 0.00126
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=) rs5743392 0.00122
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu) rs72554071 0.00121
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) rs139456217 0.00121
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00102
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_007127.3(VIL1):c.1514G>A (p.Arg505Gln) rs146529113 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala) rs777175618 0.00097
NM_020921.4(NIN):c.5996G>A (p.Arg1999His) rs141405524 0.00097
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) rs45507693 0.00097
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=) rs141697521 0.00094
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala) rs113091571 0.00092
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) rs143355299 0.00090
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=) rs202047755 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_016529.6(ATP8A2):c.76+10G>A rs369291641 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_145725.3(TRAF3):c.449G>A (p.Arg150His) rs141920055 0.00079
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_003038.5(SLC1A4):c.65C>T (p.Pro22Leu) rs201175768 0.00073
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_004447.6(EPS8):c.1838A>G (p.Tyr613Cys) rs74888964 0.00071
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser) rs190384194 0.00070
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_002472.3(MYH8):c.3532C>T (p.Arg1178Cys) rs142073810 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn) rs140682366 0.00066
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_001166108.2(PALLD):c.365C>T (p.Pro122Leu) rs116158771 0.00064
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu) rs201693932 0.00059
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys) rs533820347 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_001365276.2(TNXB):c.1927A>G (p.Thr643Ala) rs201703963 0.00049
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile) rs41555714 0.00048
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) rs61734296 0.00048
NM_170754.4(TNS2):c.3248G>A (p.Gly1083Glu) rs139881378 0.00048
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly) rs150893158 0.00048
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) rs140628687 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp) rs34482255 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile) rs61733982 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe) rs143941725 0.00039
NM_178554.6(KY):c.988C>T (p.Pro330Ser) rs201201519 0.00039
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly) rs373355746 0.00034
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu) rs189786599 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile) rs34830702 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_001853.4(COL9A3):c.1135G>A (p.Gly379Ser) rs201250184 0.00030
NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg) rs760926920 0.00030
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val) rs201808443 0.00030
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_005045.4(RELN):c.5796C>T (p.Asn1932=) rs200299096 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg) rs183149417 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_001378687.1(ATP2C1):c.2058-17T>C rs117316812 0.00021
NM_004104.5(FASN):c.3829C>G (p.Pro1277Ala) rs764159372 0.00021
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) rs185865505 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys) rs61757616 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) rs201905772 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=) rs35291173 0.00016
NM_022455.5(NSD1):c.-8G>A rs199639292 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00011
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_001734.5(C1S):c.1079G>T (p.Gly360Val) rs143619931 0.00009
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_018668.5(VPS33B):c.1170+5G>A rs201431055 0.00004
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825 0.00001
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_021831.6(AGBL5):c.909-3C>T rs772125178 0.00001
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=) rs782140099 0.00001
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4del rs730881230
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000237.3(LPL):c.213C>G (p.His71Gln) rs11542065
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg) rs28555446
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001374828.1(ARID1B):c.352TCC[6] (p.Ser124del) rs770512547
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup) rs574179816
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001643.2(APOA2):c.53-43TG[16] rs17244502
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003754.3(EIF3F):c.233C>T (p.Pro78Leu)
NM_003835.4(RGS9):c.1521C>G (p.Phe507Leu) rs538728807
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004993.6(ATXN3):c.916_917insC (p.Gly306fs) rs763461489
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del) rs3918142
NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)
NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys) rs145944049
NM_007286.6(SYNPO):c.2372CCCCGC[2] (p.Pro795_Pro800del)
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
NM_017852.5(NLRP2):c.1586C>T (p.Thr529Ile) rs113752373
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_018013.4(SOBP):c.2260C>T (p.Pro754Ser)
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val)
NM_020831.6(MRTFA):c.1993GCCCCC[2] (p.665AP[2]) rs754085988
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) rs150022595
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu) rs71622515
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del) rs374626758
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_032656.4(DHX37):c.478GAG[11] (p.Glu168_Ser169insGluGlu)
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_145200.5(CABP4):c.541+7_541+8delinsGC rs34039523
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) rs10578999
NM_152783.5(D2HGDH):c.1272G>A (p.Pro424=) rs375565047
NM_173651.4(FSIP2):c.4459A>G (p.Ile1487Val)
NM_177438.3(DICER1):c.4206+7_4206+8dup rs1555368535
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15]) rs10591869
NM_182758.4(WDR72):c.3149-30CT[10] rs57737580
NM_182758.4(WDR72):c.3149-30CT[14] rs57737580
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
UGT1A1*28 rs3064744

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