ClinVar Miner

List of variants reported as benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 578
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_006019.4(TCIRG1):c.1166-970A>G rs906713 0.81709
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_181688.3(KRTAP10-10):c.302T>A (p.Val101Glu) rs115298124 0.05080
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_198687.2(KRTAP10-4):c.355T>C (p.Cys119Arg) rs79601471 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_173076.3(ABCA12):c.821A>G (p.Gln274Arg) rs11890468 0.03767
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979 0.02971
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02714
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_005634.3(SOX3):c.127G>A (p.Ala43Thr) rs73637709 0.02446
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) rs28926182 0.02378
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_203447.4(DOCK8):c.952G>A (p.Ala318Thr) rs35482838 0.02279
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_000284.4(PDHA1):c.57+2482G>A rs145749914 0.02089
NM_203447.4(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114 0.02082
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser) rs35533773 0.01925
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.736-15_736-4dup rs111033503 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745 0.01778
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_017909.4(RMND1):c.1349G>A (p.Ter450=) rs115079861 0.01733
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_005634.3(SOX3):c.307C>A (p.Pro103Thr) rs201101913 0.01624
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_181688.3(KRTAP10-10):c.248A>C (p.Asp83Ala) rs76743925 0.01608
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031 0.01605
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_001370595.2(COA8):c.23A>G (p.Lys8Arg) rs190920873 0.01562
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_002465.4(MYBPC1):c.556+9G>A rs112788142 0.01527
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_022835.3(PLEKHG2):c.2600-20G>A rs73930732 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_197947.3(CLEC7A):c.482C>T (p.Ser161Leu) rs59819090 0.01488
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_001160372.4(TRAPPC9):c.1982-20A>C rs74414386 0.01477
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_002661.5(PLCG2):c.1558-18C>T rs113312523 0.01465
NM_031407.7(HUWE1):c.2262-17C>A rs143891272 0.01465
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser) rs79325774 0.01424
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_003172.4(SURF1):c.751+6T>C rs41296099 0.01414
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_000419.5(ITGA2B):c.1545-8C>A rs41361752 0.01409
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001369268.1(ACAN):c.3010A>G (p.Thr1004Ala) rs34570487 0.01391
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_004562.3(PRKN):c.783A>G (p.Leu261=) rs9456711 0.01329
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_016592.5(GNAS):c.715C>A (p.Pro239Thr) rs79527543 0.01288
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295 0.01261
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_025129.5(FUZ):c.1238C>A (p.Ala413Asp) rs115945199 0.01238
NM_000797.4(DRD4):c.1004C>G (p.Ala335Gly) rs200996360 0.01230
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_020223.4(FAM20C):c.46G>T (p.Val16Leu) rs150401144 0.01203
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile) rs61753876 0.01148
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met) rs8178040 0.01119
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_013275.6(ANKRD11):c.-59-7422C>T rs80051617 0.01067
NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) rs79652942 0.01063
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His) rs73219719 0.01054
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_020066.5(FMN2):c.778G>A (p.Ala260Thr) rs147858483 0.00978
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) rs191256186 0.00971
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr) rs61749567 0.00937
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_000637.5(GSR):c.334-5T>A rs28641651 0.00920
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001177701.3(IFT27):c.415C>T (p.Arg139Trp) rs112218090 0.00881
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00872
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) rs34709212 0.00843
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) rs78829338 0.00822
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001371986.1(UNC80):c.600+5G>A rs116203254 0.00800
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_007118.4(TRIO):c.7391C>T (p.Ala2464Val) rs115054458 0.00760
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001478.5(B4GALNT1):c.1547C>T (p.Ala516Val) rs17454674 0.00756
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_002976.4(SCN7A):c.1685A>G (p.Tyr562Cys) rs143491867 0.00743
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_004260.4(RECQL4):c.2463+16C>A rs747029514 0.00736
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_001983.4(ERCC1):c.843+32G>A rs116640350 0.00729
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614 0.00719
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) rs76576170 0.00714
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_003477.3(PDHX):c.566G>A (p.Arg189His) rs61752925 0.00665
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) rs28362302 0.00632
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386 0.00619
NM_012310.5(KIF4A):c.1276G>T (p.Ala426Ser) rs145983282 0.00617
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_145207.3(AFG2A):c.2485G>T (p.Asp829Tyr) rs35206443 0.00609
NM_000542.5(SFTPB):c.529G>A (p.Val177Ile) rs34550459 0.00607
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000270.4(PNP):c.649G>A (p.Val217Ile) rs138702206 0.00601
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_004429.5(EFNB1):c.509C>T (p.Ala170Val) rs147599832 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_002447.4(MST1R):c.1838A>C (p.Gln613Pro) rs35986685 0.00570
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_019066.5(MAGEL2):c.2692A>G (p.Ser898Gly) rs180690391 0.00561
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_031475.3(ESPN):c.1709C>T (p.Pro570Leu) rs527968078 0.00529
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_004933.3(CDH15):c.718C>T (p.Leu240Phe) rs142647750 0.00509
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00481
NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter) rs76274604 0.00480
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859 0.00469
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_017986.4(SLC52A1):c.371C>T (p.Ala124Val) rs146289149 0.00426
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_145045.5(ODAD3):c.148C>T (p.Pro50Ser) rs143295007 0.00403
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) rs11797456 0.00401
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg) rs36060670 0.00280
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_017909.4(RMND1):c.140G>A (p.Arg47His) rs6934360 0.00245
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) rs143578678 0.00217
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe) rs115271229 0.00207
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_003737.4(DCHS1):c.5938A>T (p.Thr1980Ser) rs146411944 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) rs200823016 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408 0.00142
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004519.4(KCNQ3):c.1568+12A>G rs181790623 0.00128
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg) rs59763167 0.00096
NM_001036.6(RYR3):c.4622+14C>T rs182323574 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_002641.4(PIGA):c.-63+13C>T rs185874005 0.00077
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00016
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001145252.3(CFP):c.236G>A (p.Arg79Gln) rs761962858 0.00002
NC_012920.1(MT-CO1):m.6734G>A rs41413745
NC_012920.1(MT-CO1):m.7175T>C rs28358874
NC_012920.1(MT-CYB):m.12239C>T rs376062400
NC_012920.1(MT-CYB):m.15746A>G rs386829260
NC_012920.1(MT-ND1):m.3447A>G rs878853074
NC_012920.1(MT-ND1):m.3990C>T rs878853005
NC_012920.1:m.10499A>G rs1057520074
NC_012920.1:m.13722A>G rs386829190
NC_012920.1:m.14133A>G rs879100848
NC_012920.1:m.14476G>A rs1057520103
NC_012920.1:m.15235A>G rs201250154
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.5302T>C rs878853115
NC_012920.1:m.5465T>C rs3902405
NC_012920.1:m.7789G>A rs386829014
NC_012920.1:m.8865G>A rs386829056
NC_012920.1:m.9545A>G rs878853022
NC_012920.1:m.9947G>A rs370688668
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) rs62636581
NM_000381.4(MID1):c.661-22_661-21dup rs375668839
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001029891.3(PGAM4):c.649G>A (p.Val217Ile) rs376654190
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001039591.3(USP9X):c.3149-8dup rs758704238
NM_001042681.2(RERE):c.3064C>G (p.Pro1022Ala) rs202121539
NM_001042681.2(RERE):c.39GGACCG[3] (p.14DR[5]) rs201665914
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001195248.2(APTX):c.771-13_771-12dup rs34600530
NM_001205254.2(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001292063.2(OTOG):c.8191-12C>A rs11828989
NM_001329943.3(KIAA0586):c.2945-9dup rs748594194
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004426.3(PHC1):c.1272GCA[4] (p.Gln438_Gln439del) rs368945524
NM_004483.5(GCSH):c.293-16dup rs202181338
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_006019.4(TCIRG1):c.-5+560dup rs5792431
NM_006019.4(TCIRG1):c.2279TGGGCC[3] (p.760LG[3]) rs199973759
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_015215.4(CAMTA1):c.806-5del rs200318010
NM_015570.4(AUTS2):c.3377ACC[10] (p.His1132_His1133dup) rs538005366
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018993.4(RIN2):c.-36-2865del rs72242041
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.779-13_779-12del rs5876252
NM_153603.4(COG7):c.170-11_170-9del rs71379679
NM_173076.3(ABCA12):c.1649A>G (p.Glu550Gly) rs16853149
NM_173076.3(ABCA12):c.859C>G (p.Arg287Gly) rs11891778
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
m.1462G>A rs111033326

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