ClinVar Miner

List of variants reported as likely benign by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 742
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_018489.3(ASH1L):c.4246T>C (p.Ser1416Pro) rs13373934 0.01106
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr) rs41278954 0.00753
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_015261.3(NCAPD3):c.1727G>A (p.Gly576Asp) rs73603039 0.00680
NM_015215.4(CAMTA1):c.2927G>A (p.Arg976Lys) rs61741616 0.00663
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) rs145115262 0.00595
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_015261.3(NCAPD3):c.4163C>T (p.Thr1388Met) rs116394634 0.00459
NM_004044.7(ATIC):c.5C>T (p.Ala2Val) rs138988481 0.00428
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742 0.00416
NM_020812.4(DOCK6):c.2160+5G>A rs150276162 0.00405
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_001348768.2(HECW2):c.533A>G (p.Asn178Ser) rs114024560 0.00353
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_015261.3(NCAPD3):c.125T>C (p.Ile42Thr) rs112183153 0.00325
NM_001958.5(EEF1A2):c.1030-8G>A rs112283537 0.00314
NM_015570.4(AUTS2):c.11C>T (p.Pro4Leu) rs200189077 0.00301
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr) rs117661115 0.00208
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_006059.4(LAMC3):c.1520-6G>A rs192031352 0.00175
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu) rs148376885 0.00169
NM_005634.3(SOX3):c.77T>C (p.Ile26Thr) rs142709662 0.00168
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00145
NM_019842.4(KCNQ5):c.22G>A (p.Gly8Arg) rs191331629 0.00144
NM_133443.4(GPT2):c.334-3C>T rs202025868 0.00143
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile) rs183060698 0.00141
NM_001278512.2(AP3B2):c.113+7G>A rs756540347 0.00138
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866 0.00109
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_001190274.2(FBXO11):c.232+7C>T rs752461788 0.00100
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met) rs56132571 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001382347.1(MYO5A):c.839-7A>G rs199749277 0.00093
NM_004229.4(MED14):c.2860T>C (p.Tyr954His) rs149954074 0.00091
NM_012280.4(FTSJ1):c.*8C>T rs201095751 0.00091
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser) rs147745609 0.00078
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp) rs61996330 0.00070
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser) rs147898420 0.00058
NM_004229.4(MED14):c.1825A>G (p.Arg609Gly) rs145739870 0.00056
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_015021.3(ZNF292):c.5330C>T (p.Ser1777Phe) rs41273279 0.00055
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_015261.3(NCAPD3):c.2278T>G (p.Cys760Gly) rs141965615 0.00050
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00050
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser) rs79386457 0.00048
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu) rs200792145 0.00042
NM_004525.3(LRP2):c.8458C>A (p.Arg2820Ser) rs140586887 0.00041
NM_006059.4(LAMC3):c.3409G>C (p.Ala1137Pro) rs149766298 0.00041
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile) rs145439001 0.00041
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_014727.3(KMT2B):c.1157T>C (p.Val386Ala) rs374075740 0.00039
NM_133443.4(GPT2):c.1198G>C (p.Glu400Gln) rs140225037 0.00039
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) rs111806051 0.00036
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_138422.4(ADAT3):c.1069G>C (p.Glu357Gln) rs200437566 0.00035
NM_203408.4(FAM47A):c.1707C>A (p.Phe569Leu) rs191524414 0.00035
NM_001389.5(DSCAM):c.4548T>G (p.Phe1516Leu) rs201602690 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_001130105.1(CERT1):c.55T>G (p.Phe19Val) rs202137230 0.00033
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) rs200751676 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_020066.5(FMN2):c.2201G>A (p.Arg734Gln) rs140911005 0.00031
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp) rs201353893 0.00031
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys) rs138713603 0.00030
NM_004774.4(MED1):c.1113G>T (p.Gln371His) rs138920788 0.00029
NM_016373.4(WWOX):c.1142G>A (p.Arg381His) rs202002431 0.00029
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr) rs148453804 0.00026
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser) rs145154396 0.00026
NM_014975.3(MAST1):c.4115C>A (p.Pro1372His) rs373376362 0.00026
NM_014975.3(MAST1):c.1638+7G>A rs200207566 0.00025
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met) rs150325340 0.00024
NM_015267.4(CUX2):c.3724G>A (p.Gly1242Arg) rs201097767 0.00024
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys) rs201219118 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu) rs201045158 0.00021
NM_001378414.1(HDAC4):c.1979-8C>T rs201875453 0.00020
NM_004774.4(MED1):c.429-7C>T rs368821178 0.00020
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser) rs147981204 0.00019
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile) rs200862250 0.00019
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) rs143664009 0.00018
NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val) rs376775890 0.00017
NM_004525.3(LRP2):c.3266G>A (p.Arg1089His) rs143115109 0.00017
NM_005908.4(MANBA):c.2416-3C>T rs375466384 0.00017
NM_001348768.2(HECW2):c.2434+6G>A rs376334623 0.00016
NM_001371928.1(AHDC1):c.3055G>A (p.Gly1019Ser) rs373215750 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) rs149576827 0.00015
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys) rs202065982 0.00015
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_005522.5(HOXA1):c.562C>A (p.Gln188Lys) rs150540921 0.00014
NM_005676.5(RBM10):c.1421A>T (p.Asp474Val) rs782007244 0.00014
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys) rs746340334 0.00014
NM_015261.3(NCAPD3):c.304A>C (p.Lys102Gln) rs200432850 0.00014
NM_018489.3(ASH1L):c.7976G>A (p.Arg2659His) rs201394353 0.00014
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540 0.00013
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln) rs370821294 0.00013
NM_015080.4(NRXN2):c.4985A>G (p.Asn1662Ser) rs149386596 0.00013
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met) rs373187839 0.00013
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_020812.4(DOCK6):c.4061G>A (p.Arg1354Gln) rs372715066 0.00012
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu) rs199748488 0.00011
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln) rs755136217 0.00011
NM_001614.5(ACTG1):c.984+7C>T rs369691985 0.00011
NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln) rs371595717 0.00011
NM_014727.3(KMT2B):c.2457G>A (p.Pro819=) rs763878702 0.00011
NM_018249.6(CDK5RAP2):c.1490A>G (p.Asn497Ser) rs375863465 0.00011
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser) rs201306174 0.00011
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_012309.5(SHANK2):c.451G>T (p.Asp151Tyr) rs967203648 0.00010
NM_015215.4(CAMTA1):c.814G>A (p.Gly272Ser) rs201816354 0.00010
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys) rs200531045 0.00010
NM_001003694.2(BRPF1):c.2537C>T (p.Ser846Leu) rs539571131 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001389.5(DSCAM):c.5269C>A (p.Pro1757Thr) rs201890626 0.00009
NM_004525.3(LRP2):c.11851G>A (p.Asp3951Asn) rs761977482 0.00009
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His) rs371708810 0.00009
NM_006734.4(HIVEP2):c.6892A>T (p.Thr2298Ser) rs201009823 0.00009
NM_018489.3(ASH1L):c.6995T>A (p.Ile2332Asn) rs201789145 0.00009
NM_203408.4(FAM47A):c.748G>A (p.Gly250Arg) rs201672251 0.00009
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000426.4(LAMA2):c.4930G>A (p.Val1644Met) rs182762857 0.00008
NM_000836.4(GRIN2D):c.884C>T (p.Pro295Leu) rs750359083 0.00008
NM_001386298.1(CIC):c.4748A>G (p.Asn1583Ser) rs773111863 0.00008
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser) rs559674838 0.00008
NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe) rs199871043 0.00008
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly) rs141799673 0.00008
NM_000153.4(GALC):c.165C>G (p.Phe55Leu) rs537461366 0.00007
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001348716.2(KDM6B):c.1199G>A (p.Ser400Asn) rs150106060 0.00007
NM_004229.4(MED14):c.3232A>G (p.Ile1078Val) rs755442697 0.00007
NM_005522.5(HOXA1):c.151G>C (p.Asp51His) rs144288739 0.00007
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) rs374807145 0.00007
NM_013275.6(ANKRD11):c.3743C>T (p.Ala1248Val) rs752060365 0.00007
NM_206965.2(FTCD):c.906+7C>T rs376001900 0.00007
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001374828.1(ARID1B):c.4346G>A (p.Arg1449His) rs370064281 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_003718.5(CDK13):c.3094G>A (p.Gly1032Ser) rs200412973 0.00006
NM_004268.5(MED17):c.327G>A (p.Met109Ile) rs756882876 0.00006
NM_004366.6(CLCN2):c.532G>A (p.Glu178Lys) rs780553073 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_006059.4(LAMC3):c.2986C>T (p.Arg996Cys) rs144084540 0.00006
NM_006059.4(LAMC3):c.4661G>A (p.Arg1554His) rs547090197 0.00006
NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln) rs141183045 0.00006
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu) rs746355740 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_015080.4(NRXN2):c.1514C>T (p.Ala505Val) rs200334993 0.00006
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu) rs202098158 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala) rs199756061 0.00006
NM_018136.5(ASPM):c.761A>G (p.Glu254Gly) rs767536421 0.00006
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384 0.00006
NM_020812.4(DOCK6):c.5690C>T (p.Thr1897Met) rs371203988 0.00006
NM_024596.5(MCPH1):c.505A>T (p.Asn169Tyr) rs201120541 0.00006
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) rs201382524 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val) rs369754449 0.00006
NM_001100913.3(PACS2):c.2144C>T (p.Ser715Leu) rs374373404 0.00005
NM_001110556.2(FLNA):c.4945+3G>A rs372673802 0.00005
NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile) rs763669401 0.00005
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met) rs367919114 0.00005
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001543.5(NDST1):c.2515G>A (p.Glu839Lys) rs150060318 0.00005
NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu) rs780866053 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_006015.6(ARID1A):c.458C>T (p.Pro153Leu) rs769828930 0.00005
NM_014516.4(CNOT3):c.959C>T (p.Pro320Leu) rs190206269 0.00005
NM_015215.4(CAMTA1):c.2257G>A (p.Gly753Ser) rs751332240 0.00005
NM_018136.5(ASPM):c.350G>A (p.Arg117Gln) rs147420907 0.00005
NM_020987.5(ANK3):c.199A>G (p.Ile67Val) rs753653601 0.00005
NM_020987.5(ANK3):c.3279T>A (p.Phe1093Leu) rs562083248 0.00005
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) rs150361703 0.00004
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp) rs368124753 0.00004
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln) rs753638648 0.00004
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) rs370883451 0.00004
NM_001303052.2(MYT1L):c.1189G>T (p.Ala397Ser) rs755926766 0.00004
NM_001349338.3(FOXP1):c.119A>T (p.Glu40Val) rs765070623 0.00004
NM_001374828.1(ARID1B):c.3194C>T (p.Pro1065Leu) rs370190261 0.00004
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.3757C>T (p.Arg1253Trp) rs375636006 0.00004
NM_001378452.1(ITPR1):c.2300G>A (p.Arg767His) rs760141315 0.00004
NM_001386298.1(CIC):c.7054+4C>A rs572168958 0.00004
NM_001389.5(DSCAM):c.850C>T (p.Arg284Cys) rs267606133 0.00004
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001429.4(EP300):c.902A>G (p.Asn301Ser) rs778066441 0.00004
NM_001543.5(NDST1):c.40G>A (p.Val14Met) rs377262041 0.00004
NM_003748.4(ALDH4A1):c.1376C>T (p.Pro459Leu) rs756299719 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His) rs142884214 0.00004
NM_004525.3(LRP2):c.7006C>T (p.Arg2336Trp) rs149849411 0.00004
NM_006766.5(KAT6A):c.2710G>A (p.Glu904Lys) rs755856755 0.00004
NM_015267.4(CUX2):c.382C>T (p.Arg128Trp) rs749551874 0.00004
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_018026.4(PACS1):c.2404A>G (p.Met802Val) rs754776375 0.00004
NM_020812.4(DOCK6):c.188G>A (p.Arg63Gln) rs776824883 0.00004
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala) rs754915792 0.00004
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00003
NM_001100913.3(PACS2):c.2119+5C>A rs782261491 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001148.6(ANK2):c.11098T>G (p.Ser3700Ala) rs1438803009 0.00003
NM_001148.6(ANK2):c.483+8T>C rs774512699 0.00003
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg) rs750597721 0.00003
NM_001368397.1(FRMPD4):c.2494G>A (p.Glu832Lys) rs145583343 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001375380.1(EBF3):c.135-7C>T rs988088877 0.00003
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354 0.00003
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_003482.4(KMT2D):c.2306A>C (p.His769Pro) rs550637969 0.00003
NM_004525.3(LRP2):c.2213G>C (p.Gly738Ala) rs762447103 0.00003
NM_005121.3(MED13):c.3559G>A (p.Asp1187Asn) rs142787257 0.00003
NM_005121.3(MED13):c.5248A>G (p.Ser1750Gly) rs778912049 0.00003
NM_014008.5(CCDC22):c.909+8C>T rs782559160 0.00003
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala) rs773833981 0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) rs377611234 0.00003
NM_015570.4(AUTS2):c.2066G>A (p.Arg689His) rs769690050 0.00003
NM_016219.5(MAN1B1):c.1681C>T (p.Arg561Trp) rs772165357 0.00003
NM_020812.4(DOCK6):c.4671C>A (p.Asn1557Lys) rs1356611309 0.00003
NM_024596.5(MCPH1):c.1628C>G (p.Thr543Ser) rs763881518 0.00003
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val) rs138736400 0.00003
NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val) rs368710298 0.00003
NM_198525.3(KIF7):c.1515C>G (p.Asp505Glu) rs377280724 0.00003
NM_206965.2(FTCD):c.172G>A (p.Val58Met) rs749659966 0.00003
NM_000240.4(MAOA):c.739G>A (p.Val247Ile) rs777420059 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys) rs748853764 0.00002
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met) rs121912264 0.00002
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys) rs371343942 0.00002
NM_001190274.2(FBXO11):c.238G>A (p.Asp80Asn) rs371395626 0.00002
NM_001197104.2(KMT2A):c.5630C>T (p.Ala1877Val) rs782094920 0.00002
NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile) rs200597760 0.00002
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) rs767641674 0.00002
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) rs374575232 0.00002
NM_001374828.1(ARID1B):c.5680G>A (p.Ala1894Thr) rs768478175 0.00002
NM_001386298.1(CIC):c.4831A>G (p.Asn1611Asp) rs748419463 0.00002
NM_002547.3(OPHN1):c.1183A>G (p.Asn395Asp) rs749837689 0.00002
NM_003482.4(KMT2D):c.6421G>A (p.Gly2141Arg) rs373429610 0.00002
NM_003748.4(ALDH4A1):c.463G>A (p.Val155Met) rs774464848 0.00002
NM_004463.3(FGD1):c.514C>T (p.Arg172Trp) rs1222189428 0.00002
NM_004525.3(LRP2):c.4689G>A (p.Met1563Ile) rs548232056 0.00002
NM_004525.3(LRP2):c.7307C>T (p.Thr2436Ile) rs771962414 0.00002
NM_004774.4(MED1):c.3680C>T (p.Ser1227Leu) rs144178898 0.00002
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val) rs760415071 0.00002
NM_014727.3(KMT2B):c.1508C>T (p.Thr503Met) rs772584640 0.00002
NM_014727.3(KMT2B):c.2768G>A (p.Arg923Gln) rs754812892 0.00002
NM_014727.3(KMT2B):c.6749G>A (p.Arg2250His) rs775887663 0.00002
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg) rs772898348 0.00002
NM_016148.5(SHANK1):c.1750C>T (p.Leu584Phe) rs1184853066 0.00002
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys) rs200733896 0.00002
NM_018249.6(CDK5RAP2):c.2284G>A (p.Ala762Thr) rs138553167 0.00002
NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser) rs752566822 0.00002
NM_152296.5(ATP1A3):c.1282G>A (p.Asp428Asn) rs1555863482 0.00002
NM_152296.5(ATP1A3):c.56G>A (p.Arg19His) rs782596240 0.00002
NM_000052.7(ATP7A):c.3884G>A (p.Arg1295Gln) rs375709681 0.00001
NM_000159.4(GCDH):c.484C>G (p.Gln162Glu) rs1299348900 0.00001
NM_000245.4(MET):c.3091A>G (p.Met1031Val) rs45564937 0.00001
NM_000254.3(MTR):c.3031G>A (p.Asp1011Asn) rs753262198 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.76G>T (p.Ala26Ser) rs1158872840 0.00001
NM_000263.4(NAGLU):c.817T>C (p.Cys273Arg) rs759511446 0.00001
NM_000426.4(LAMA2):c.6226G>A (p.Val2076Ile) rs767444868 0.00001
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr) rs1205903424 0.00001
NM_000666.3(ACY1):c.442G>A (p.Glu148Lys) rs1385904500 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_001003694.2(BRPF1):c.319G>A (p.Val107Ile) rs1167611082 0.00001
NM_001005273.3(CHD3):c.284A>G (p.Tyr95Cys) rs777077851 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001099922.3(ALG13):c.1250+7A>G rs1464181502 0.00001
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln) rs865831227 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001128840.3(CACNA1D):c.1893-3T>C rs755763353 0.00001
NM_001148.6(ANK2):c.10796A>C (p.His3599Pro) rs2096343477 0.00001
NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn) rs1334864660 0.00001
NM_001197104.2(KMT2A):c.1642A>G (p.Thr548Ala) rs1057519412 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp) rs1468401006 0.00001
NM_001273.5(CHD4):c.100+6A>T rs376670062 0.00001
NM_001282531.3(ADNP):c.1123G>A (p.Gly375Arg) rs763980090 0.00001
NM_001291867.2(NHS):c.2351A>G (p.Tyr784Cys) rs781676239 0.00001
NM_001303052.2(MYT1L):c.2284-5G>A rs772684698 0.00001
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser) rs779421943 0.00001
NM_001321075.3(DLG4):c.1421G>A (p.Arg474Gln) rs773473959 0.00001
NM_001321075.3(DLG4):c.926G>A (p.Arg309Gln) rs766960060 0.00001
NM_001330078.2(NRXN1):c.162G>A (p.Met54Ile) rs1057519409 0.00001
NM_001349338.3(FOXP1):c.1652+4C>T rs572849158 0.00001
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro) rs532400782 0.00001
NM_001371928.1(AHDC1):c.1262G>A (p.Gly421Glu) rs1178928609 0.00001
NM_001374828.1(ARID1B):c.1943G>A (p.Arg648Gln) rs754042537 0.00001
NM_001374828.1(ARID1B):c.382G>A (p.Ala128Thr) rs1374669064 0.00001
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val) rs549254467 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003491.4(NAA10):c.583C>T (p.Arg195Cys) rs1057519620 0.00001
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln) rs371321697 0.00001
NM_004380.3(CREBBP):c.3836+7A>T rs1259742748 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004525.3(LRP2):c.6011T>C (p.Leu2004Pro) rs1338933587 0.00001
NM_004535.3(MYT1):c.346G>A (p.Glu116Lys) rs769149524 0.00001
NM_004722.4(AP4M1):c.1148C>G (p.Pro383Arg) rs1462415418 0.00001
NM_004774.4(MED1):c.638C>T (p.Pro213Leu) rs1236352923 0.00001
NM_004840.3(ARHGEF6):c.1387T>C (p.Cys463Arg) rs757760891 0.00001
NM_005908.4(MANBA):c.2245C>A (p.Leu749Ile) rs370834102 0.00001
NM_005957.5(MTHFR):c.1009G>A (p.Gly337Arg) rs1214062050 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_006059.4(LAMC3):c.1174C>T (p.His392Tyr) rs771846512 0.00001
NM_006059.4(LAMC3):c.493G>A (p.Ala165Thr) rs367598489 0.00001
NM_006567.5(FARS2):c.8G>T (p.Gly3Val) rs200380429 0.00001
NM_006734.4(HIVEP2):c.3205G>T (p.Val1069Leu) rs534200523 0.00001
NM_006734.4(HIVEP2):c.3958T>C (p.Ser1320Pro) rs369617975 0.00001
NM_012156.2(EPB41L1):c.1325T>A (p.Val442Asp) rs1242238241 0.00001
NM_013275.6(ANKRD11):c.3812C>T (p.Ser1271Leu) rs767520089 0.00001
NM_014141.6(CNTNAP2):c.3527C>T (p.Thr1176Ile) rs746520358 0.00001
NM_014516.4(CNOT3):c.710C>T (p.Ala237Val) rs767913658 0.00001
NM_014727.3(KMT2B):c.1802G>A (p.Arg601Gln) rs761455591 0.00001
NM_014727.3(KMT2B):c.6818G>A (p.Arg2273His) rs1450121966 0.00001
NM_014727.3(KMT2B):c.7019C>T (p.Pro2340Leu) rs767396615 0.00001
NM_014975.3(MAST1):c.4604C>T (p.Ser1535Leu) rs1442703139 0.00001
NM_015267.4(CUX2):c.2417C>T (p.Ser806Leu) rs1445106287 0.00001
NM_015338.6(ASXL1):c.314C>T (p.Thr105Met) rs749495615 0.00001
NM_015443.4(KANSL1):c.2119C>T (p.His707Tyr) rs959376850 0.00001
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu) rs753887911 0.00001
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936 0.00001
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr) rs935815422 0.00001
NM_017780.4(CHD7):c.8425G>A (p.Val2809Met) rs763048936 0.00001
NM_018136.5(ASPM):c.10113A>C (p.Lys3371Asn) rs767471866 0.00001
NM_018136.5(ASPM):c.3168+7T>G rs370546641 0.00001
NM_018249.6(CDK5RAP2):c.727G>A (p.Glu243Lys) rs138588916 0.00001
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe) rs765158624 0.00001
NM_020066.5(FMN2):c.4591A>T (p.Ser1531Cys) rs781097988 0.00001
NM_020812.4(DOCK6):c.1990C>T (p.His664Tyr) rs763009445 0.00001
NM_020987.5(ANK3):c.5204G>T (p.Cys1735Phe) rs774735705 0.00001
NM_020987.5(ANK3):c.5965T>C (p.Trp1989Arg) rs372922084 0.00001
NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro) rs1265388422 0.00001
NM_022455.5(NSD1):c.846A>C (p.Pro282=) rs377539686 0.00001
NM_025114.4(CEP290):c.1038T>G (p.Asp346Glu) rs372923864 0.00001
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro) rs777365811 0.00001
NM_025114.4(CEP290):c.6818+5G>A rs935214183 0.00001
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile) rs756042946 0.00001
NM_054027.6(ANKH):c.1280C>T (p.Thr427Ile) rs200410815 0.00001
NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His) rs761787560 0.00001
NM_153252.5(BRWD3):c.2377C>T (p.Arg793Cys) rs768212341 0.00001
NM_153252.5(BRWD3):c.4184G>A (p.Arg1395His) rs889378149 0.00001
NM_170606.3(KMT2C):c.2351C>A (p.Ser784Tyr) rs780343727 0.00001
NM_198525.3(KIF7):c.3628A>G (p.Lys1210Glu) rs751522626 0.00001
NM_201253.3(CRB1):c.2873G>A (p.Ser958Asn) rs1236248738 0.00001
NM_203447.4(DOCK8):c.1220G>A (p.Ser407Asn) rs774744500 0.00001
NM_206965.2(FTCD):c.842C>T (p.Ala281Val) rs752941882 0.00001
NM_000026.4(ADSL):c.1022T>C (p.Leu341Ser) rs770755205
NM_000027.4(AGA):c.971C>T (p.Thr324Ile) rs1736643790
NM_000147.5(FUCA1):c.1093A>G (p.Asn365Asp) rs1639194544
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000153.4(GALC):c.196-3dup rs561184126
NM_000153.4(GALC):c.380G>T (p.Arg127Leu) rs775886832
NM_000156.6(GAMT):c.392-2A>G rs2082618808
NM_000159.4(GCDH):c.506-8G>A rs376016112
NM_000181.4(GUSB):c.1667dup (p.Met556fs) rs1790698721
NM_000240.4(MAOA):c.168+6T>C rs2033460975
NM_000254.3(MTR):c.739A>G (p.Ser247Gly) rs1661600753
NM_000263.4(NAGLU):c.1892G>T (p.Ser631Ile) rs1227171021
NM_000263.4(NAGLU):c.268C>A (p.His90Asn) rs1046181264
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000277.3(PAH):c.1056del (p.Glu353fs) rs62507350
NM_000277.3(PAH):c.821A>G (p.Lys274Arg) rs1875223959
NM_000404.4(GLB1):c.334C>T (p.His112Tyr) rs1699792652
NM_000426.4(LAMA2):c.1018G>T (p.Glu340Ter) rs1778647170
NM_000426.4(LAMA2):c.2296T>C (p.Cys766Arg) rs1787583332
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.5446-8G>T rs377089476
NM_000426.4(LAMA2):c.7534C>A (p.Pro2512Thr) rs756669467
NM_000426.4(LAMA2):c.8116G>A (p.Asp2706Asn) rs1784913484
NM_000618.5(IGF1):c.447G>C (p.Lys149Asn) rs756533031
NM_000666.3(ACY1):c.184G>C (p.Val62Leu) rs202206383
NM_000834.5(GRIN2B):c.3949C>G (p.Leu1317Val)
NM_000834.5(GRIN2B):c.4319C>G (p.Ala1440Gly) rs767037011
NM_000836.4(GRIN2D):c.1085+6T>A rs1261712245
NM_000836.4(GRIN2D):c.1583T>G (p.Val528Gly) rs1970943117
NM_000836.4(GRIN2D):c.3124G>T (p.Gly1042Trp) rs1297532606
NM_000836.4(GRIN2D):c.3175G>T (p.Ala1059Ser) rs1971324842
NM_000836.4(GRIN2D):c.3196C>A (p.Pro1066Thr) rs1386318829
NM_000836.4(GRIN2D):c.88G>A (p.Glu30Lys) rs1970669406
NM_001003694.2(BRPF1):c.3355A>G (p.Met1119Val) rs1282057899
NM_001005273.3(CHD3):c.5090G>A (p.Arg1697Gln) rs61738372
NM_001042432.2(CLN3):c.443_445del (p.Val148del) rs752130042
NM_001042432.2(CLN3):c.461-4C>G rs1006236175
NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del) rs2046113354
NM_001080.3(ALDH5A1):c.109C>G (p.Pro37Ala) rs1764663348
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser) rs1408463417
NM_001100913.3(PACS2):c.1292G>A (p.Arg431Gln) rs2081009644
NM_001100913.3(PACS2):c.587-4G>C rs782379339
NM_001110556.2(FLNA):c.6008G>A (p.Arg2003His) rs1182812659
NM_001123385.2(BCOR):c.3261G>T (p.Lys1087Asn) rs933663018
NM_001123385.2(BCOR):c.3500A>G (p.Lys1167Arg) rs1935079756
NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr) rs2058520222
NM_001127222.2(CACNA1A):c.6656_6658dup (p.His2219dup) rs749638821
NM_001127222.2(CACNA1A):c.6736T>C (p.Ser2246Pro) rs2054680597
NM_001128840.3(CACNA1D):c.1384C>G (p.Arg462Gly) rs765353117
NM_001128840.3(CACNA1D):c.2732G>A (p.Ser911Asn) rs2095048446
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.5695T>C (p.Cys1899Arg) rs779483775
NM_001134407.3(GRIN2A):c.1498-6A>G rs1307155809
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134831.2(AHI1):c.439G>A (p.Glu147Lys) rs1790713679
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val) rs200565814
NM_001148.6(ANK2):c.10591G>T (p.Asp3531Tyr) rs2096040389
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu) rs150678882
NM_001170629.2(CHD8):c.161G>T (p.Gly54Val) rs1057519411
NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile) rs1889549384
NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp) rs1057519410
NM_001170629.2(CHD8):c.7399T>A (p.Ser2467Thr) rs1887208398
NM_001170629.2(CHD8):c.7400C>A (p.Ser2467Tyr) rs1887208262
NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del) rs1348736609
NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser) rs1749787678
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001190274.2(FBXO11):c.2120A>G (p.Asn707Ser) rs1670752914
NM_001190274.2(FBXO11):c.221_223del (p.Val74del) rs761010339
NM_001190274.2(FBXO11):c.96_107del (p.Pro33_Pro36del) rs770886918
NM_001197104.2(KMT2A):c.1828T>A (p.Ser610Thr) rs1949970364
NM_001197104.2(KMT2A):c.7466A>C (p.Lys2489Thr) rs1950532082
NM_001197104.2(KMT2A):c.9119C>T (p.Pro3040Leu) rs1565305337
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.349C>G (p.Leu117Val) rs2082843611
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001271.4(CHD2):c.2332A>C (p.Asn778His) rs985913320
NM_001271.4(CHD2):c.4278+5T>A rs202174434
NM_001273.5(CHD4):c.85C>T (p.Pro29Ser) rs1948696599
NM_001282531.3(ADNP):c.1592T>C (p.Met531Thr) rs943246415
NM_001282531.3(ADNP):c.886C>T (p.Arg296Trp) rs1449967098
NM_001291867.2(NHS):c.1008G>C (p.Gln336His) rs2066405948
NM_001291867.2(NHS):c.230C>G (p.Pro77Arg) rs2064344076
NM_001303052.2(MYT1L):c.2437G>A (p.Glu813Lys) rs2048541733
NM_001303052.2(MYT1L):c.459A>T (p.Glu153Asp) rs2056825764
NM_001308093.3(GATA4):c.142G>A (p.Val48Met) rs773581495
NM_001317078.4(MED19):c.-2C>T rs200909581
NM_001321075.3(DLG4):c.1363C>T (p.Arg455Cys) rs1207600580
NM_001330078.2(NRXN1):c.1697T>C (p.Leu566Pro) rs1667698491
NM_001330078.2(NRXN1):c.2731A>G (p.Thr911Ala) rs2091701971
NM_001330078.2(NRXN1):c.3112T>G (p.Ser1038Ala) rs2089576800
NM_001348716.2(KDM6B):c.1642A>C (p.Thr548Pro) rs770970305
NM_001348716.2(KDM6B):c.1648A>C (p.Thr550Pro) rs1361566141
NM_001348716.2(KDM6B):c.1670A>C (p.Asn557Thr) rs2078598011
NM_001348716.2(KDM6B):c.2165A>C (p.Gln722Pro) rs767953083
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del) rs59627144
NM_001348716.2(KDM6B):c.2281_2286del (p.Thr761_Thr762del) rs2078616927
NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala) rs1000777879
NM_001348716.2(KDM6B):c.3740C>G (p.Thr1247Ser) rs1290256049
NM_001348716.2(KDM6B):c.4259C>T (p.Thr1420Ile) rs201258301
NM_001348716.2(KDM6B):c.910G>A (p.Glu304Lys) rs1345380228
NM_001348768.2(HECW2):c.2128G>T (p.Val710Leu) rs753420806
NM_001349338.3(FOXP1):c.1183G>A (p.Ala395Thr) rs376351360
NM_001349338.3(FOXP1):c.1888G>T (p.Val630Leu) rs772816590
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys) rs1556301404
NM_001360.3(DHCR7):c.1105C>T (p.Leu369Phe) rs1565584984
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) rs2017489032
NM_001368809.2(AMPD2):c.437A>G (p.Gln146Arg) rs1650680448
NM_001371596.2(MFSD8):c.736A>T (p.Ser246Cys) rs1739586527
NM_001371928.1(AHDC1):c.1720G>T (p.Val574Leu) rs746985425
NM_001371928.1(AHDC1):c.2135T>G (p.Val712Gly) rs757820524
NM_001371928.1(AHDC1):c.3212C>T (p.Pro1071Leu) rs1207775129
NM_001371928.1(AHDC1):c.3320A>C (p.Gln1107Pro) rs745613671
NM_001374828.1(ARID1B):c.1619CGG[3] (p.Ala543del) rs757953295
NM_001374828.1(ARID1B):c.3089+6C>T rs1203684217
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[5] (p.Gln213_Gln214del) rs587779743
NM_001374828.1(ARID1B):c.612_620dup (p.Gln212_Gln214dup) rs797045274
NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln212_Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.799G>C (p.Asp267His) rs1778855554
NM_001375380.1(EBF3):c.1038C>T (p.Thr346=) rs142165671
NM_001375380.1(EBF3):c.1759+8T>G rs1849925996
NM_001376.5(DYNC1H1):c.5507T>C (p.Phe1836Ser) rs2048192344
NM_001376.5(DYNC1H1):c.8887-8T>C rs2048462761
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del) rs572595399
NM_001377.3(DYNC2H1):c.12734T>C (p.Val4245Ala) rs1324023747
NM_001377.3(DYNC2H1):c.12836G>C (p.Arg4279Pro) rs541028343
NM_001377.3(DYNC2H1):c.4966C>T (p.Gln1656Ter) rs1861453541
NM_001378120.1(MBD5):c.323C>T (p.Ala108Val) rs1707174579
NM_001378120.1(MBD5):c.998C>A (p.Pro333His) rs1680687635
NM_001378452.1(ITPR1):c.1760A>T (p.Tyr587Phe) rs757318302
NM_001378452.1(ITPR1):c.6525C>G (p.Asn2175Lys) rs2046991703
NM_001378452.1(ITPR1):c.8029-4C>A rs1360786935
NM_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys) rs2042532335
NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile) rs1252205617
NM_001386298.1(CIC):c.3122C>G (p.Ser1041Cys) rs2037716622
NM_001389.5(DSCAM):c.1337C>T (p.Pro446Leu)
NM_001389.5(DSCAM):c.3049A>T (p.Ile1017Phe) rs2090334314
NM_001389.5(DSCAM):c.5362G>A (p.Val1788Ile) rs748431627
NM_001429.4(EP300):c.3038A>G (p.Glu1013Gly)
NM_001429.4(EP300):c.5987G>C (p.Ser1996Thr) rs2059210090
NM_001482.3(GATM):c.256G>T (p.Ala86Ser) rs1889641277
NM_001543.5(NDST1):c.1438-7T>G rs1302551197
NM_001543.5(NDST1):c.1749+8dup rs528143978
NM_001614.5(ACTG1):c.124-4G>C rs782481421
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001904.4(CTNNB1):c.1408C>T (p.His470Tyr) rs2078364837
NM_001904.4(CTNNB1):c.23T>C (p.Met8Thr)
NM_002024.6(FMR1):c.479C>T (p.Thr160Ile) rs2043536419
NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys) rs2054208783
NM_002641.4(PIGA):c.287T>C (p.Val96Ala) rs866734779
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
NM_003070.5(SMARCA2):c.2184+5T>C
NM_003482.4(KMT2D):c.11132C>G (p.Pro3711Arg) rs967055107
NM_003482.4(KMT2D):c.11226GCA[5] (p.Gln3745dup) rs760816616
NM_003482.4(KMT2D):c.11838A>C (p.Gln3946His) rs1421051475
NM_003482.4(KMT2D):c.11886A>T (p.Gln3962His) rs180784366
NM_003482.4(KMT2D):c.12568A>T (p.Ile4190Phe) rs1565774358
NM_003482.4(KMT2D):c.13433G>C (p.Arg4478Pro) rs200156008
NM_003482.4(KMT2D):c.15962A>G (p.Tyr5321Cys) rs1942487296
NM_003482.4(KMT2D):c.538G>T (p.Ala180Ser) rs1938253682
NM_003482.4(KMT2D):c.5921C>G (p.Thr1974Arg) rs777415982
NM_003611.3(OFD1):c.172C>G (p.Gln58Glu) rs2046874934
NM_003611.3(OFD1):c.2954G>A (p.Gly985Asp) rs2048228026
NM_003611.3(OFD1):c.382G>A (p.Val128Ile) rs766600036
NM_003718.5(CDK13):c.1219G>A (p.Gly407Arg) rs1784365827
NM_003718.5(CDK13):c.1654T>G (p.Leu552Val) rs1784377641
NM_003748.4(ALDH4A1):c.103G>A (p.Glu35Lys) rs150027463
NM_003748.4(ALDH4A1):c.499A>T (p.Ile167Phe) rs923744167
NM_003859.3(DPM1):c.471G>C (p.Trp157Cys) rs1985883778
NM_004366.6(CLCN2):c.1373C>G (p.Ala458Gly) rs772617403
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del) rs763108828
NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His) rs2051794294
NM_004463.3(FGD1):c.1093T>C (p.Ser365Pro) rs377155391
NM_004463.3(FGD1):c.17C>A (p.Ala6Asp) rs1161949227
NM_004519.4(KCNQ3):c.1973A>G (p.Tyr658Cys) rs1423597114
NM_004523.4(KIF11):c.1628A>G (p.Asn543Ser) rs1844750557
NM_004525.3(LRP2):c.9496A>G (p.Lys3166Glu) rs1423836845
NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg) rs1362578761
NM_004535.3(MYT1):c.655G>C (p.Glu219Gln) rs1983531708
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004774.4(MED1):c.2195C>T (p.Thr732Met) rs1181801639
NM_004774.4(MED1):c.763G>A (p.Ala255Thr) rs2048498295
NM_004830.4(MED23):c.40-7_40-5del rs200823095
NM_004933.3(CDH15):c.2288A>G (p.Tyr763Cys)
NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter) rs2270416
NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp) rs1984236966
NM_005097.4(LGI1):c.1103A>G (p.Tyr368Cys) rs2059988321
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NM_005271.5(GLUD1):c.1198-6T>C rs1415334667
NM_005378.6(MYCN):c.494C>A (p.Ala165Asp) rs1267366929
NM_005908.4(MANBA):c.2189C>G (p.Pro730Arg) rs1729558557
NM_005908.4(MANBA):c.796A>G (p.Ile266Val) rs1424334315
NM_006015.6(ARID1A):c.5309G>A (p.Gly1770Asp) rs747674955
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) rs764060744
NM_006059.4(LAMC3):c.4639G>A (p.Glu1547Lys) rs780728013
NM_006059.4(LAMC3):c.842G>A (p.Gly281Asp) rs1268185118
NM_006059.4(LAMC3):c.904G>A (p.Glu302Lys) rs1188602137
NM_006420.3(ARFGEF2):c.3274C>A (p.Arg1092Ser) rs144190029
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) rs2034339472
NM_006565.4(CTCF):c.136G>A (p.Asp46Asn) rs2052054114
NM_006593.4(TBR1):c.1621G>A (p.Asp541Asn)
NM_006766.5(KAT6A):c.1662G>T (p.Gln554His) rs1822554678
NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro) rs1169193672
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr) rs766320012
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
NM_007327.4(GRIN1):c.2443+10_2443+12del rs1833691374
NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn)
NM_007373.4(SHOC2):c.982T>C (p.Ser328Pro) rs1848436487
NM_012156.2(EPB41L1):c.1600C>T (p.Arg534Trp) rs375772370
NM_012156.2(EPB41L1):c.2269_2271del rs2063600623
NM_012330.4(KAT6B):c.1787G>A (p.Arg596Gln) rs770204556
NM_012330.4(KAT6B):c.2949C>A (p.Asp983Glu)
NM_012330.4(KAT6B):c.2958G>C (p.Arg986Ser) rs1845383324
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del) rs1564626392
NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys) rs1057519623
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys) rs761295315
NM_013275.6(ANKRD11):c.3932G>A (p.Arg1311Gln) rs534628110
NM_013275.6(ANKRD11):c.4022C>T (p.Pro1341Leu) rs1456520981
NM_013275.6(ANKRD11):c.4434C>G (p.Asp1478Glu) rs1239629602
NM_013275.6(ANKRD11):c.5160C>G (p.His1720Gln) rs1035902808
NM_013275.6(ANKRD11):c.5323G>T (p.Ala1775Ser) rs559618415
NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp) rs1557113578
NM_014491.4(FOXP2):c.495A>T (p.Gln165His) rs752789124
NM_014516.4(CNOT3):c.1200_1220del (p.Gly401_Gly407del) rs746808824
NM_014727.2(KMT2B):c.3059dup rs11373774
NM_014727.3(KMT2B):c.155G>A (p.Gly52Asp) rs1969028425
NM_014727.3(KMT2B):c.763C>T (p.Pro255Ser) rs1969123578
NM_014975.3(MAST1):c.1029A>T (p.Glu343Asp) rs1969972459
NM_015080.4(NRXN2):c.453C>A (p.Phe151Leu) rs2057122061
NM_015215.4(CAMTA1):c.1414G>A (p.Gly472Ser) rs1377787788
NM_015215.4(CAMTA1):c.439-4C>G rs918660621
NM_015215.4(CAMTA1):c.4884-8T>G rs753927796
NM_015261.3(NCAPD3):c.3510AGA[1] (p.Glu1171del) rs757369291
NM_015267.4(CUX2):c.1214C>A (p.Thr405Lys) rs375886505
NM_015267.4(CUX2):c.2758G>A (p.Gly920Arg) rs1439998059
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys) rs1565997620
NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
NM_015570.4(AUTS2):c.754G>C (p.Gly252Arg) rs145046813
NM_015981.4(CAMK2A):c.1238-4C>A rs768958439
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup) rs538804415
NM_016219.5(MAN1B1):c.939G>A (p.Trp313Ter) rs1830793247
NM_016729.3(FOLR1):c.493+7G>T rs1948222554
NM_017668.3(NDE1):c.182A>G (p.Asn61Ser) rs1274498488
NM_017721.5(CC2D1A):c.2454+12dup rs3217680
NM_017755.6(NSUN2):c.1950G>C (p.Lys650Asn) rs760188590
NM_017755.6(NSUN2):c.563G>A (p.Gly188Asp) rs1737470346
NM_017755.6(NSUN2):c.608A>C (p.Asn203Thr) rs1737468359
NM_017780.4(CHD7):c.560A>C (p.Gln187Pro) rs1809054864
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly) rs1024326558
NM_017780.4(CHD7):c.891G>C (p.Gln297His) rs1809080744
NM_017822.4(KANSL2):c.1142A>T (p.Asp381Val) rs1939466268
NM_018026.4(PACS1):c.1341C>A (p.Asn447Lys) rs1855492092
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln) rs1855762487
NM_018026.4(PACS1):c.416A>C (p.Asn139Thr) rs1854579571
NM_018136.5(ASPM):c.170T>C (p.Leu57Pro) rs1365215724
NM_018136.5(ASPM):c.7667C>T (p.Ala2556Val) rs1411046226
NM_018136.5(ASPM):c.9314A>G (p.Lys3105Arg) rs1656801765
NM_018136.5(ASPM):c.9446G>T (p.Arg3149Ile) rs1656767645
NM_018249.6(CDK5RAP2):c.145G>A (p.Glu49Lys) rs2042722680
NM_018249.6(CDK5RAP2):c.5308-4G>C rs2032949484
NM_018249.6(CDK5RAP2):c.5345G>A (p.Ser1782Asn) rs1262643836
NM_018489.3(ASH1L):c.176A>G (p.Glu59Gly) rs1204718205
NM_018489.3(ASH1L):c.3241G>A (p.Ala1081Thr) rs1665814715
NM_018489.3(ASH1L):c.4078A>G (p.Met1360Val) rs1419733198
NM_018489.3(ASH1L):c.4715A>G (p.Gln1572Arg) rs1665699693
NM_018489.3(ASH1L):c.6795+3A>G rs535467658
NM_019109.5(ALG1):c.215A>G (p.Lys72Arg) rs768379497
NM_019109.5(ALG1):c.83G>A (p.Arg28Gln) rs1353988508
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser) rs549110435
NM_020066.5(FMN2):c.2188G>A (p.Glu730Lys) rs1666378082
NM_020066.5(FMN2):c.4858+8C>A rs1672248858
NM_020361.5(CPA6):c.649T>C (p.Tyr217His) rs1811441000
NM_020435.4(GJC2):c.709T>G (p.Phe237Val) rs2034719630
NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser) rs1057519401
NM_020812.4(DOCK6):c.1644-5del rs1357756494
NM_020812.4(DOCK6):c.1891C>T (p.His631Tyr) rs1446750648
NM_020812.4(DOCK6):c.1915C>G (p.His639Asp) rs748140232
NM_020812.4(DOCK6):c.6086C>G (p.Thr2029Ser) rs1358989533
NM_020812.4(DOCK6):c.631del (p.Ala211fs) rs761856660
NM_020987.5(ANK3):c.11894_11935del (p.Thr3965_Thr3978del) rs2082150277
NM_020987.5(ANK3):c.188A>T (p.Asn63Ile) rs2098133661
NM_020987.5(ANK3):c.4353T>C (p.Ile1451=) rs774832921
NM_020987.5(ANK3):c.9963A>T (p.Glu3321Asp) rs2082556385
NM_021008.4(DEAF1):c.1292dup (p.Thr432fs) rs1859982135
NM_021008.4(DEAF1):c.86C>T (p.Ala29Val) rs1219925185
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.661T>C (p.Trp221Arg) rs1745529939
NM_021120.4(DLG3):c.1640G>A (p.Arg547Lys) rs2087371040
NM_021120.4(DLG3):c.952A>G (p.Asn318Asp) rs2086608421
NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val) rs747482559
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.325G>C (p.Val109Leu) rs199703555
NM_024757.5(EHMT1):c.49C>A (p.Gln17Lys) rs1944657576
NM_025114.4(CEP290):c.181-3T>C rs770415774
NM_025114.4(CEP290):c.4777G>A (p.Asp1593Asn) rs1201073418
NM_030632.3(ASXL3):c.3040-8C>T rs1268795000
NM_031206.7(LAS1L):c.13T>A (p.Ser5Thr) rs777611742
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala) rs2065846967
NM_133433.4(NIPBL):c.658G>C (p.Asp220His) rs1742783108
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys) rs782145941
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) rs755745002
NM_152419.3(HGSNAT):c.1258C>T (p.Leu420Phe) rs755565282
NM_152743.4(BRAT1):c.166G>A (p.Val56Met) rs148548421
NM_153033.5(KCTD7):c.775G>A (p.Val259Met) rs1786654122
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys) rs1264632322
NM_170606.3(KMT2C):c.11008A>G (p.Asn3670Asp) rs2092512174
NM_170606.3(KMT2C):c.2447dup (p.Tyr816Ter) rs150073007
NM_170606.3(KMT2C):c.2698G>A (p.Gly900Arg) rs1366232611
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly) rs1284707010
NM_170606.3(KMT2C):c.6103C>A (p.Pro2035Thr) rs1053658283
NM_170606.3(KMT2C):c.9801C>G (p.Ile3267Met) rs2092584005
NM_172362.3(KCNH1):c.245A>G (p.Lys82Arg) rs1558605689
NM_172362.3(KCNH1):c.2941T>G (p.Ser981Ala) rs1681318890
NM_181303.2(NLGN3):c.244A>C (p.Lys82Gln) rs2092377179
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_198525.3(KIF7):c.1537G>C (p.Ala513Pro) rs1964038681
NM_198525.3(KIF7):c.2438T>C (p.Leu813Pro) rs1963741468
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del) rs769890385
NM_198525.3(KIF7):c.3037_3039del (p.Glu1013del) rs1567058573
NM_198525.3(KIF7):c.52G>A (p.Val18Ile) rs1420854824
NM_198904.4(GABRG2):c.632-1283C>G rs191391831
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr) rs1664322968
NM_203408.4(FAM47A):c.522_523del (p.Glu174fs) rs1922489081
NM_203447.4(DOCK8):c.1091C>G (p.Pro364Arg) rs781095788
NM_203447.4(DOCK8):c.1910C>T (p.Ala637Val) rs2053282292
NM_203447.4(DOCK8):c.4340C>G (p.Ala1447Gly) rs529920844
NM_203447.4(DOCK8):c.4528C>G (p.Gln1510Glu) rs762051692
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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