ClinVar Miner

List of variants reported as benign for not provided 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
Download table as spreadsheet
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_001042492.3(NF1):c.4836-21229G>C 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.15470T>C rs527236187
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(MT-ND2):m.5302T>C rs878853115
NC_012920.1(MT-TS2):m.12239C>T rs376062400
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.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_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_133378.4(TTN):c.26780-19dup rs397517532
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

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