ClinVar Miner

List of variants reported as uncertain significance for congenital hypothyroidism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 817
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) rs180222 0.01589
NM_003235.5(TG):c.353C>T (p.Pro118Leu) rs114322847 0.01424
NM_003466.4(PAX8):c.*1765G>A rs144041400 0.01281
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) rs2069548 0.01198
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_003235.5(TG):c.199G>A (p.Gly67Ser) rs116340633 0.00924
NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=) rs112428007 0.00914
NM_001206744.2(TPO):c.1491C>T (p.Ile497=) rs149718460 0.00903
NM_000453.3(SLC5A5):c.*720G>A rs186287175 0.00822
NM_001206744.2(TPO):c.-51C>T rs28909986 0.00816
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) rs16904791 0.00801
NM_001363711.2(DUOX2):c.4080+7G>A rs115310278 0.00766
NM_000369.5(TSHR):c.*960T>C rs142517342 0.00759
NM_000453.3(SLC5A5):c.1058+8C>T rs189249326 0.00723
NM_003466.4(PAX8):c.479-6C>T rs76792774 0.00703
NM_003235.5(TG):c.1434G>A (p.Val478=) rs116254142 0.00692
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_000453.3(SLC5A5):c.839+11C>T rs182064161 0.00650
NM_000453.3(SLC5A5):c.*862C>T rs80177071 0.00639
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_000453.3(SLC5A5):c.424-12C>A rs142231563 0.00627
NM_001363711.2(DUOX2):c.3435C>T (p.His1145=) rs150893514 0.00617
NM_003235.5(TG):c.7539C>T (p.Asp2513=) rs114539802 0.00591
NM_000441.2(SLC26A4):c.*1905G>A rs375630290 0.00558
NM_003466.4(PAX8):c.1087+4C>T rs111481416 0.00545
NM_000369.5(TSHR):c.*728A>G rs73342245 0.00532
NM_001206744.2(TPO):c.2387-12T>C rs28912997 0.00509
NM_001206744.2(TPO):c.2749-4G>A rs28915686 0.00476
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) rs45531732 0.00469
NM_003466.4(PAX8):c.*1807C>G rs138533336 0.00464
NM_003235.5(TG):c.1296G>A (p.Gln432=) rs61741609 0.00444
NM_003235.5(TG):c.2793T>C (p.Arg931=) rs61736710 0.00443
NM_003235.5(TG):c.3313G>A (p.Val1105Ile) rs115670342 0.00443
NM_000453.3(SLC5A5):c.*256T>C rs527241494 0.00440
NM_003235.5(TG):c.5856G>A (p.Arg1952=) rs115476696 0.00430
NM_000453.3(SLC5A5):c.*130A>G rs532170177 0.00425
NM_003235.5(TG):c.1269C>T (p.Arg423=) rs115916398 0.00412
NM_003235.5(TG):c.2561G>A (p.Arg854Gln) rs115361039 0.00408
NM_001363711.2(DUOX2):c.*1064G>A rs117341314 0.00392
NM_000549.5(TSHB):c.*64T>C rs41312672 0.00368
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_003235.5(TG):c.325A>G (p.Ile109Val) rs35301433 0.00350
NM_003235.5(TG):c.3129C>T (p.His1043=) rs112300885 0.00347
NM_003235.5(TG):c.144C>T (p.Tyr48=) rs114436500 0.00345
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_001363711.2(DUOX2):c.3081G>A (p.Lys1027=) rs78876145 0.00338
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) rs61740825 0.00330
NM_000369.5(TSHR):c.*1695T>C rs112187344 0.00326
NM_000441.2(SLC26A4):c.*1123A>G rs141341508 0.00322
NM_000369.5(TSHR):c.*1580A>G rs189084497 0.00313
NM_001363711.2(DUOX2):c.3759G>A (p.Pro1253=) rs140663764 0.00307
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_003235.5(TG):c.6783-3C>T rs143075252 0.00297
NM_003466.4(PAX8):c.885C>T (p.Tyr295=) rs112872760 0.00293
NM_001363711.2(DUOX2):c.633C>T (p.Phe211=) rs35157799 0.00277
NM_000453.3(SLC5A5):c.*353C>T rs188334435 0.00270
NM_000369.5(TSHR):c.171-11T>C rs145265345 0.00266
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_000441.2(SLC26A4):c.*1059T>C rs183926745 0.00260
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_001206744.2(TPO):c.2717C>T (p.Pro906Leu) rs138289170 0.00239
NM_003235.5(TG):c.7083G>T (p.Ala2361=) rs116723711 0.00239
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_000441.2(SLC26A4):c.*200A>T rs112260663 0.00236
NM_001363711.2(DUOX2):c.558C>T (p.Gly186=) rs2467830 0.00234
NM_003466.4(PAX8):c.*703G>A rs141475261 0.00233
NM_001363711.2(DUOX2):c.2544G>C (p.Leu848=) rs139095108 0.00232
NM_003466.4(PAX8):c.*1457G>A rs532372672 0.00208
NM_003235.5(TG):c.537A>G (p.Ser179=) rs114875802 0.00203
NM_000369.5(TSHR):c.*1807T>A rs183029344 0.00200
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) rs115436575 0.00198
NM_001206744.2(TPO):c.2242G>A (p.Val748Met) rs28991292 0.00197
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) rs138469414 0.00197
NM_001206744.2(TPO):c.1483G>A (p.Ala495Thr) rs28910612 0.00187
NM_000453.3(SLC5A5):c.*830C>T rs138127009 0.00186
NM_001363711.2(DUOX2):c.1197G>A (p.Ser399=) rs146745678 0.00185
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_003235.5(TG):c.3647C>T (p.Pro1216Leu) rs142335537 0.00182
NM_003235.5(TG):c.6646A>G (p.Ile2216Val) rs138690529 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001206744.2(TPO):c.1317G>A (p.Lys439=) rs28910598 0.00175
NM_003235.5(TG):c.6351T>G (p.Thr2117=) rs145367055 0.00172
NM_003235.5(TG):c.7782C>T (p.Ile2594=) rs139055416 0.00169
NM_000369.5(TSHR):c.357T>A (p.Pro119=) rs144084915 0.00168
NM_000453.3(SLC5A5):c.*14C>T rs185148597 0.00168
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_001363711.2(DUOX2):c.3558C>T (p.Thr1186=) rs140393165 0.00151
NM_001363711.2(DUOX2):c.1911C>T (p.Ser637=) rs144100380 0.00148
NM_001363711.2(DUOX2):c.597G>C (p.Ser199=) rs2467828 0.00148
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_001363711.2(DUOX2):c.4207T>A (p.Ser1403Thr) rs144186721 0.00144
NM_003235.5(TG):c.2980A>G (p.Ile994Val) rs111363334 0.00143
NM_003235.5(TG):c.4193G>A (p.Arg1398His) rs115263899 0.00143
NM_001206744.2(TPO):c.95-14A>G rs116390200 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_003235.5(TG):c.7449C>T (p.Ile2483=) rs115806626 0.00138
NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe) rs140990171 0.00136
NM_001206744.2(TPO):c.840G>A (p.Pro280=) rs187974063 0.00135
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_003466.4(PAX8):c.*2276G>A rs189067014 0.00135
NM_001363711.2(DUOX2):c.514-14C>G rs533037683 0.00134
NM_001206744.2(TPO):c.612+15C>T rs182021224 0.00133
NM_003235.5(TG):c.1075+8T>G rs184523779 0.00133
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) rs150602845 0.00132
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00130
NM_003235.5(TG):c.3804C>T (p.Ser1268=) rs61747461 0.00130
NM_001363711.2(DUOX2):c.*1145C>T rs191997510 0.00127
NM_000369.5(TSHR):c.929G>A (p.Arg310His) rs139286618 0.00122
NM_003235.5(TG):c.3057C>T (p.Ser1019=) rs116032324 0.00120
NM_003235.5(TG):c.5855G>A (p.Arg1952Gln) rs141191791 0.00120
NM_000369.5(TSHR):c.1971C>T (p.Ser657=) rs143773384 0.00116
NM_001206744.2(TPO):c.2386+8C>G rs183118123 0.00114
NM_003235.5(TG):c.426C>T (p.Asp142=) rs114477962 0.00113
NM_001363711.2(DUOX2):c.*624C>T rs143376422 0.00111
NM_000441.2(SLC26A4):c.*1682C>T rs376138572 0.00110
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) rs76343591 0.00109
NM_001206744.2(TPO):c.*113G>A rs28915688 0.00107
NM_001206744.2(TPO):c.208C>G (p.Pro70Ala) rs17855780 0.00106
NM_000453.3(SLC5A5):c.*575G>A rs528150801 0.00100
NM_001206744.2(TPO):c.2536C>T (p.Arg846Trp) rs28913014 0.00100
NM_001206744.2(TPO):c.*54C>T rs180847489 0.00099
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
NM_003235.5(TG):c.7737T>C (p.Ala2579=) rs145611717 0.00098
NM_000453.3(SLC5A5):c.*1273A>G rs187096710 0.00094
NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) rs138971379 0.00091
NM_001363711.2(DUOX2):c.70+15C>A rs138005153 0.00091
NM_000369.5(TSHR):c.*249A>C rs140533848 0.00090
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003466.4(PAX8):c.*204C>A rs575199444 0.00086
NM_003235.5(TG):c.4323G>A (p.Ser1441=) rs769654694 0.00085
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001206744.2(TPO):c.2499C>T (p.Asp833=) rs142148533 0.00083
NM_001363711.2(DUOX2):c.4098G>A (p.Pro1366=) rs150609056 0.00083
NM_000441.2(SLC26A4):c.*791A>G rs146458433 0.00079
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00078
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074 0.00076
NM_003466.4(PAX8):c.129G>A (p.Arg43=) rs75444177 0.00076
NM_000369.5(TSHR):c.*400T>C rs143040631 0.00073
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_001363711.2(DUOX2):c.888C>T (p.Ile296=) rs144183694 0.00070
NM_001206744.2(TPO):c.1758C>T (p.His586=) rs151122101 0.00069
NM_000441.2(SLC26A4):c.*1836C>T rs565613619 0.00066
NM_001363711.2(DUOX2):c.381G>A (p.Glu127=) rs569561856 0.00066
NM_003466.4(PAX8):c.*2368C>T rs150097052 0.00065
NM_000441.2(SLC26A4):c.*69C>A rs76894072 0.00061
NM_001363711.2(DUOX2):c.*665G>A rs3743221 0.00061
NM_001363711.2(DUOX2):c.514-4G>A rs374243549 0.00061
NM_003466.4(PAX8):c.*2320G>A rs138391311 0.00061
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) rs190914906 0.00058
NM_000441.2(SLC26A4):c.*523A>G rs560536749 0.00056
NM_001363711.2(DUOX2):c.243G>A (p.Pro81=) rs369158930 0.00056
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln) rs146664125 0.00056
NM_003235.5(TG):c.3024C>T (p.Arg1008=) rs143929015 0.00055
NM_003235.5(TG):c.4563G>A (p.Leu1521=) rs115981067 0.00054
NM_003466.4(PAX8):c.*2044G>C rs143820836 0.00054
NM_003235.5(TG):c.1900G>A (p.Gly634Arg) rs116417639 0.00053
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser) rs142014480 0.00051
NM_001206744.2(TPO):c.2051G>A (p.Arg684His) rs151064519 0.00051
NM_001363711.2(DUOX2):c.3185-9C>T rs148813922 0.00051
NM_001363711.2(DUOX2):c.*418T>C rs183535338 0.00049
NM_003235.5(TG):c.6819G>A (p.Thr2273=) rs780709015 0.00049
NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=) rs145238835 0.00048
NM_003235.5(TG):c.1802C>T (p.Thr601Met) rs139516987 0.00048
NM_003235.5(TG):c.3139+9G>A rs201582196 0.00048
NM_003235.5(TG):c.7335A>T (p.Ser2445=) rs146491847 0.00048
NM_003466.4(PAX8):c.*844C>T rs183711194 0.00048
NM_003466.4(PAX8):c.*1066G>A rs147293224 0.00047
NM_003466.4(PAX8):c.*845G>A rs536050658 0.00047
NM_003235.5(TG):c.2150G>A (p.Arg717Gln) rs200611812 0.00046
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00045
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00045
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) rs115902639 0.00044
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00043
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) rs140232663 0.00043
NM_003466.4(PAX8):c.*1029G>A rs527418580 0.00043
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) rs142998186 0.00042
NM_001206744.2(TPO):c.2212C>G (p.Gln738Glu) rs200796513 0.00041
NM_001363711.2(DUOX2):c.-75C>T rs534912442 0.00041
NM_003466.4(PAX8):c.*938C>G rs886054788 0.00041
NM_000453.3(SLC5A5):c.1768-11C>T rs188874441 0.00040
NM_003235.5(TG):c.8202C>T (p.Gly2734=) rs142157473 0.00040
NM_000369.5(TSHR):c.1290G>A (p.Leu430=) rs375393735 0.00039
NM_001363711.2(DUOX2):c.*914G>T rs137909525 0.00039
NM_003235.5(TG):c.4527C>T (p.His1509=) rs201216611 0.00039
NM_003235.5(TG):c.6952G>A (p.Asp2318Asn) rs201930579 0.00039
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
NM_000453.3(SLC5A5):c.*1135C>T rs181799129 0.00038
NM_001206744.2(TPO):c.94+13C>T rs184087573 0.00038
NM_001363711.2(DUOX2):c.3531G>T (p.Gln1177His) rs144254445 0.00038
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_003466.4(PAX8):c.*2475C>T rs551249311 0.00038
NM_000453.3(SLC5A5):c.*17G>A rs371679177 0.00037
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_001363711.2(DUOX2):c.*227C>T rs754945416 0.00036
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) rs61745409 0.00035
NM_003235.5(TG):c.6605C>G (p.Pro2202Arg) rs150133670 0.00035
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_001363711.2(DUOX2):c.1415C>A (p.Ala472Asp) rs201703879 0.00034
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
NM_000369.5(TSHR):c.-60G>A rs201252762 0.00031
NM_000441.1(SLC26A4):c.-189A>T rs111033440 0.00031
NM_001363711.2(DUOX2):c.204T>G (p.Gly68=) rs185014205 0.00031
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00031
NM_003466.4(PAX8):c.*897C>T rs745424024 0.00031
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_001363711.2(DUOX2):c.*1437C>T rs575405401 0.00030
NM_003466.4(PAX8):c.1227C>G (p.Pro409=) rs190681011 0.00030
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp) rs200238968 0.00029
NM_000453.3(SLC5A5):c.-184C>T rs534574809 0.00028
NM_001363711.2(DUOX2):c.*1203C>T rs551654008 0.00028
NM_003235.5(TG):c.1325A>G (p.Glu442Gly) rs149822114 0.00028
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00028
NM_003466.4(PAX8):c.*501C>T rs573072931 0.00028
NM_003235.5(TG):c.5864-7T>C rs199728785 0.00027
NM_000369.5(TSHR):c.1206C>T (p.Ser402=) rs150524100 0.00026
NM_000549.5(TSHB):c.256G>A (p.Gly86Arg) rs190110651 0.00026
NM_003235.5(TG):c.5375G>A (p.Arg1792His) rs140063357 0.00026
NM_003466.4(PAX8):c.1116C>T (p.Pro372=) rs189229644 0.00026
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) rs45499704 0.00025
NM_000441.2(SLC26A4):c.*2047A>G rs534409544 0.00025
NM_001363711.2(DUOX2):c.1836T>C (p.Ser612=) rs139688032 0.00025
NM_001363711.2(DUOX2):c.3041C>T (p.Ala1014Val) rs144759209 0.00025
NM_003235.5(TG):c.198C>T (p.Asp66=) rs141082783 0.00025
NM_003466.4(PAX8):c.*708C>T rs768371093 0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) rs199939219 0.00025
NM_000441.2(SLC26A4):c.*2093T>G rs542517353 0.00024
NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=) rs117626343 0.00024
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg) rs201659055 0.00024
NM_003235.5(TG):c.3001+6T>G rs372517082 0.00024
NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) rs201093713 0.00024
NM_000441.2(SLC26A4):c.*36C>T rs764382402 0.00023
NM_003235.5(TG):c.7364G>A (p.Arg2455His) rs2272707 0.00023
NM_003466.4(PAX8):c.-63C>A rs866836744 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000441.2(SLC26A4):c.*409A>T rs752578836 0.00022
NM_001363711.2(DUOX2):c.2395C>T (p.Arg799Trp) rs200104538 0.00022
NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met) rs201263758 0.00022
NM_003235.5(TG):c.4743C>T (p.Phe1581=) rs146574874 0.00022
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000441.2(SLC26A4):c.2236-15G>A rs372776461 0.00021
NM_000453.3(SLC5A5):c.839+13G>A rs186878627 0.00021
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) rs201781919 0.00021
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00021
NM_003235.5(TG):c.2819A>C (p.Glu940Ala) rs200208174 0.00021
NM_003466.4(PAX8):c.*2193G>A rs148816725 0.00021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_001363711.2(DUOX2):c.2176C>T (p.Arg726Trp) rs141573582 0.00020
NM_003235.5(TG):c.6324G>A (p.Arg2108=) rs186519521 0.00020
NM_003235.5(TG):c.94C>T (p.Arg32Cys) rs371315184 0.00020
NM_001206744.2(TPO):c.9G>A (p.Ala3=) rs61758084 0.00019
NM_003235.5(TG):c.1389C>T (p.Asn463=) rs145681459 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_003235.5(TG):c.5485C>T (p.Arg1829Trp) rs148982115 0.00019
NM_000369.5(TSHR):c.735C>G (p.Gly245=) rs146738314 0.00018
NM_000441.1(SLC26A4):c.-139C>T rs879914861 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001363711.2(DUOX2):c.2335-3C>T rs369394906 0.00017
NM_001363711.2(DUOX2):c.314G>A (p.Gly105Glu) rs556820857 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_000369.5(TSHR):c.*1262C>T rs879662665 0.00016
NM_000441.2(SLC26A4):c.*2237A>G rs562706485 0.00016
NM_000453.3(SLC5A5):c.*1136G>A rs764090914 0.00016
NM_001206744.2(TPO):c.*144T>C rs767835569 0.00016
NM_001363711.2(DUOX2):c.*778C>A rs370048785 0.00016
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003235.5(TG):c.2686C>T (p.Arg896Trp) rs142469107 0.00016
NM_003235.5(TG):c.4862C>A (p.Thr1621Lys) rs112003182 0.00016
NM_000441.2(SLC26A4):c.*1200G>A rs549659217 0.00015
NM_000453.3(SLC5A5):c.*277T>C rs148592461 0.00015
NM_001206744.2(TPO):c.501C>T (p.Gly167=) rs370072872 0.00015
NM_001363711.2(DUOX2):c.*1438G>A rs368901021 0.00015
NM_003235.5(TG):c.5071C>T (p.Arg1691Cys) rs375968742 0.00015
NM_003466.4(PAX8):c.898+11C>T rs377714129 0.00015
NM_000369.5(TSHR):c.1621A>G (p.Ile541Val) rs747680932 0.00014
NM_001206744.2(TPO):c.2007-5T>C rs374558153 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) rs140035596 0.00014
NM_003235.5(TG):c.1862C>T (p.Thr621Met) rs144254329 0.00014
NM_003235.5(TG):c.3776C>T (p.Pro1259Leu) rs183333809 0.00014
NM_003235.5(TG):c.5863+14G>A rs758834729 0.00014
NM_003235.5(TG):c.5864-8C>T rs189500765 0.00014
NM_003235.5(TG):c.981G>A (p.Ala327=) rs146255464 0.00014
NM_001206744.2(TPO):c.2703C>T (p.Ala901=) rs141684908 0.00013
NM_001363711.2(DUOX2):c.3660G>A (p.Leu1220=) rs757964910 0.00013
NM_001363711.2(DUOX2):c.533G>T (p.Trp178Leu) rs190660925 0.00013
NM_003235.5(TG):c.4257G>A (p.Ala1419=) rs116314916 0.00013
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) rs199820445 0.00013
NM_000441.2(SLC26A4):c.*1584dup rs886061890 0.00012
NM_000453.3(SLC5A5):c.*1248C>T rs76301117 0.00012
NM_001206744.2(TPO):c.2241C>T (p.Ser747=) rs373350060 0.00012
NM_001363711.2(DUOX2):c.2335G>A (p.Val779Met) rs145061993 0.00012
NM_001363711.2(DUOX2):c.4432C>T (p.Arg1478Trp) rs371970228 0.00012
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00012
NM_003466.4(PAX8):c.*664T>C rs868036257 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_003466.4(PAX8):c.981C>T (p.Ser327=) rs552812059 0.00012
NM_000369.5(TSHR):c.1341C>T (p.Asn447=) rs777698828 0.00011
NM_000441.2(SLC26A4):c.*351G>A rs957299935 0.00011
NM_000453.3(SLC5A5):c.*606C>T rs886054295 0.00011
NM_001206744.2(TPO):c.502G>A (p.Ala168Thr) rs150812908 0.00011
NM_003235.5(TG):c.1628C>G (p.Thr543Ser) rs763864684 0.00011
NM_003235.5(TG):c.1963C>T (p.Gln655Ter) rs771807370 0.00011
NM_003235.5(TG):c.2652A>C (p.Ser884=) rs115199914 0.00011
NM_003235.5(TG):c.4990G>A (p.Val1664Met) rs180705321 0.00011
NM_003235.5(TG):c.7020C>T (p.Phe2340=) rs756155224 0.00011
NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) rs199844947 0.00011
NM_000441.2(SLC26A4):c.*1466T>A rs749750914 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) rs200948626 0.00010
NM_003235.5(TG):c.5718C>T (p.Leu1906=) rs145744799 0.00010
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000453.3(SLC5A5):c.435C>T (p.Thr145=) rs780690857 0.00009
NM_001206744.2(TPO):c.1899T>C (p.Asp633=) rs199621917 0.00009
NM_001206744.2(TPO):c.612G>A (p.Pro204=) rs3732349 0.00009
NM_001206744.2(TPO):c.617G>A (p.Arg206Gln) rs144088710 0.00009
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_001363711.2(DUOX2):c.414C>T (p.Pro138=) rs757849047 0.00009
NM_003235.5(TG):c.2299G>A (p.Gly767Arg) rs144826790 0.00009
NM_003235.5(TG):c.6498T>C (p.Ser2166=) rs200367054 0.00009
NM_003235.5(TG):c.7648G>A (p.Glu2550Lys) rs199724462 0.00009
NM_000369.5(TSHR):c.1583G>A (p.Arg528His) rs571893270 0.00008
NM_001206744.2(TPO):c.2500G>A (p.Asp834Asn) rs368163933 0.00008
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys) rs200989933 0.00008
NM_001363711.2(DUOX2):c.883-13C>G rs368847158 0.00008
NM_003235.5(TG):c.2295C>T (p.Thr765=) rs199983151 0.00008
NM_003235.5(TG):c.2330C>T (p.Pro777Leu) rs3739274 0.00008
NM_003235.5(TG):c.4443C>T (p.Tyr1481=) rs201691879 0.00008
NM_003466.4(PAX8):c.324A>T (p.Arg108=) rs967278406 0.00008
NM_000369.5(TSHR):c.915T>A (p.Ser305Arg) rs142122217 0.00007
NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys) rs577226533 0.00007
NM_001206744.2(TPO):c.491C>A (p.Pro164His) rs146913878 0.00007
NM_001363711.2(DUOX2):c.163T>C (p.Cys55Arg) rs775647342 0.00007
NM_001363711.2(DUOX2):c.3098G>A (p.Arg1033His) rs370772159 0.00007
NM_001363711.2(DUOX2):c.3910C>T (p.Arg1304Trp) rs534696164 0.00007
NM_001363711.2(DUOX2):c.602G>A (p.Gly201Glu) rs753880185 0.00007
NM_002241.5(KCNJ10):c.*52G>A rs148441646 0.00007
NM_003235.5(TG):c.2018T>C (p.Met673Thr) rs140030169 0.00007
NM_003235.5(TG):c.4093A>T (p.Asn1365Tyr) rs142264604 0.00007
NM_003235.5(TG):c.7136G>A (p.Arg2379His) rs377043149 0.00007
NM_003466.4(PAX8):c.*372C>T rs538590834 0.00007
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00006
NM_000369.5(TSHR):c.765A>G (p.Arg255=) rs777128238 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000453.3(SLC5A5):c.1725C>T (p.Ala575=) rs772716852 0.00006
NM_000453.3(SLC5A5):c.358-7C>A rs368445837 0.00006
NM_001206744.2(TPO):c.*55G>A rs529769659 0.00006
NM_001206744.2(TPO):c.2306G>A (p.Arg769Gln) rs200684166 0.00006
NM_001363711.2(DUOX2):c.*1428G>A rs770917174 0.00006
NM_001363711.2(DUOX2):c.2427C>T (p.Ala809=) rs369335936 0.00006
NM_001363711.2(DUOX2):c.2609A>G (p.Asp870Gly) rs143258582 0.00006
NM_001363711.2(DUOX2):c.3540T>C (p.Tyr1180=) rs745999464 0.00006
NM_001363711.2(DUOX2):c.3615C>T (p.Phe1205=) rs201261436 0.00006
NM_001363711.2(DUOX2):c.3820G>A (p.Val1274Met) rs764364832 0.00006
NM_001363711.2(DUOX2):c.498C>A (p.Ser166Arg) rs370438048 0.00006
NM_002241.5(KCNJ10):c.*783A>G rs886045409 0.00006
NM_003235.5(TG):c.2788C>T (p.Leu930Phe) rs554879042 0.00006
NM_003235.5(TG):c.3098C>T (p.Ala1033Val) rs780538772 0.00006
NM_003235.5(TG):c.4267C>T (p.Arg1423Cys) rs200236155 0.00006
NM_003235.5(TG):c.554C>T (p.Ala185Val) rs142432006 0.00006
NM_003235.5(TG):c.6563-3C>T rs200211140 0.00006
NM_003466.4(PAX8):c.*423C>T rs774457240 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_000369.5(TSHR):c.*182G>T rs373305430 0.00005
NM_000441.1(SLC26A4):c.-186A>G rs555307083 0.00005
NM_000441.2(SLC26A4):c.*16G>T rs761754267 0.00005
NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) rs886061886 0.00005
NM_000453.3(SLC5A5):c.*161C>T rs886054284 0.00005
NM_000453.3(SLC5A5):c.*898G>A rs886054298 0.00005
NM_001206744.2(TPO):c.1863G>A (p.Lys621=) rs373213982 0.00005
NM_001363711.2(DUOX2):c.1949T>C (p.Met650Thr) rs752426361 0.00005
NM_001363711.2(DUOX2):c.2148+10G>A rs745702141 0.00005
NM_001363711.2(DUOX2):c.2212G>A (p.Val738Met) rs142350563 0.00005
NM_001363711.2(DUOX2):c.4080+6C>T rs747176882 0.00005
NM_003235.5(TG):c.138A>G (p.Ala46=) rs751930232 0.00005
NM_003235.5(TG):c.3171G>C (p.Gly1057=) rs772388199 0.00005
NM_003235.5(TG):c.4746C>T (p.Asp1582=) rs374297725 0.00005
NM_000369.5(TSHR):c.1342G>A (p.Val448Ile) rs201889708 0.00004
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) rs368452281 0.00004
NM_000441.2(SLC26A4):c.*1735C>T rs1003068818 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) rs372072732 0.00004
NM_000453.3(SLC5A5):c.*1217A>G rs886054299 0.00004
NM_001206744.2(TPO):c.*124G>C rs747816995 0.00004
NM_001206744.2(TPO):c.-1-11G>A rs777940436 0.00004
NM_001206744.2(TPO):c.1037C>T (p.Ala346Val) rs750980404 0.00004
NM_001206744.2(TPO):c.2577C>T (p.Ile859=) rs760976450 0.00004
NM_001206744.2(TPO):c.2758G>C (p.Gly920Arg) rs780185747 0.00004
NM_001206744.2(TPO):c.759C>T (p.Phe253=) rs757051221 0.00004
NM_001363711.2(DUOX2):c.*417A>G rs766338385 0.00004
NM_001363711.2(DUOX2):c.2394G>A (p.Val798=) rs61753432 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.2676C>A (p.Asn892Lys) rs144774906 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.326-5C>T rs200837051 0.00004
NM_001363711.2(DUOX2):c.3483C>T (p.Ala1161=) rs567703268 0.00004
NM_001363711.2(DUOX2):c.4409G>A (p.Arg1470Gln) rs138103904 0.00004
NM_003235.5(TG):c.1049G>A (p.Arg350Gln) rs113998044 0.00004
NM_003235.5(TG):c.105G>A (p.Glu35=) rs374559000 0.00004
NM_003235.5(TG):c.1762C>A (p.Pro588Thr) rs764293101 0.00004
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.4151A>G (p.His1384Arg) rs548761622 0.00004
NM_003235.5(TG):c.5304C>G (p.Pro1768=) rs752715398 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_003235.5(TG):c.6518G>A (p.Arg2173Gln) rs377383606 0.00004
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) rs555719562 0.00004
NM_003235.5(TG):c.7248C>T (p.Ser2416=) rs774676063 0.00004
NM_003235.5(TG):c.8075C>T (p.Ala2692Val) rs775377530 0.00004
NM_003235.5(TG):c.8168C>T (p.Ser2723Leu) rs763672890 0.00004
NM_003466.4(PAX8):c.*2192C>T rs886054785 0.00004
NM_003466.4(PAX8):c.*2312G>A rs886054784 0.00004
NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) rs202183277 0.00004
NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) rs757960433 0.00004
NM_203395.3(IYD):c.*6375del rs886061184 0.00004
NM_000369.5(TSHR):c.*116G>A rs554104473 0.00003
NM_000369.5(TSHR):c.*1620C>G rs886050860 0.00003
NM_000369.5(TSHR):c.*1742G>T rs886050861 0.00003
NM_000369.5(TSHR):c.*458G>T rs1490089193 0.00003
NM_000369.5(TSHR):c.157A>C (p.Ser53Arg) rs886050853 0.00003
NM_000441.2(SLC26A4):c.*1068T>C rs1017422930 0.00003
NM_000441.2(SLC26A4):c.*1982C>A rs138245836 0.00003
NM_000441.2(SLC26A4):c.*2307A>G rs576278412 0.00003
NM_000441.2(SLC26A4):c.*343C>A rs139104953 0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000453.3(SLC5A5):c.*343T>C rs886054292 0.00003
NM_000453.3(SLC5A5):c.*344C>T rs886054293 0.00003
NM_000453.3(SLC5A5):c.*410G>T rs1000543077 0.00003
NM_000453.3(SLC5A5):c.19G>A (p.Gly7Arg) rs371312154 0.00003
NM_000453.3(SLC5A5):c.657G>A (p.Val219=) rs201774834 0.00003
NM_001206744.2(TPO):c.1294G>A (p.Ala432Thr) rs886054900 0.00003
NM_001206744.2(TPO):c.1313G>A (p.Arg438His) rs1210957618 0.00003
NM_001206744.2(TPO):c.1338+5G>A rs886054901 0.00003
NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln) rs141598673 0.00003
NM_001206744.2(TPO):c.2702C>G (p.Ala901Gly) rs886054972 0.00003
NM_001363711.2(DUOX2):c.*1315A>C rs886051187 0.00003
NM_001363711.2(DUOX2):c.*1357A>G rs886051186 0.00003
NM_001363711.2(DUOX2):c.*475G>A rs561532284 0.00003
NM_001363711.2(DUOX2):c.2335-8G>A rs532139907 0.00003
NM_001363711.2(DUOX2):c.3179C>T (p.Ala1060Val) rs186021702 0.00003
NM_001363711.2(DUOX2):c.3518C>T (p.Ser1173Phe) rs148718959 0.00003
NM_001363711.2(DUOX2):c.4036A>G (p.Ile1346Val) rs149848729 0.00003
NM_001363711.2(DUOX2):c.4619A>C (p.His1540Pro) rs750802774 0.00003
NM_001363711.2(DUOX2):c.944-10C>T rs756654827 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_002241.5(KCNJ10):c.*2675_*2676del rs886045398 0.00003
NM_003235.4(TG):c.-55G>A rs1354715358 0.00003
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys) rs375727924 0.00003
NM_003235.5(TG):c.3407G>A (p.Arg1136Gln) rs750140968 0.00003
NM_003235.5(TG):c.4256C>T (p.Ala1419Val) rs374574993 0.00003
NM_003235.5(TG):c.4713T>C (p.Phe1571=) rs755948833 0.00003
NM_003235.5(TG):c.5003G>A (p.Ser1668Asn) rs372120245 0.00003
NM_003235.5(TG):c.5188C>T (p.Arg1730Cys) rs200793895 0.00003
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) rs375424292 0.00003
NM_003235.5(TG):c.6945G>A (p.Pro2315=) rs769872031 0.00003
NM_003235.5(TG):c.8238G>A (p.Thr2746=) rs200646022 0.00003
NM_003466.4(PAX8):c.*2033C>T rs531249238 0.00003
NM_003466.4(PAX8):c.81G>A (p.Pro27=) rs372324872 0.00003
NM_000369.5(TSHR):c.*1053T>C rs995485227 0.00002
NM_000369.5(TSHR):c.*1496A>G rs997932391 0.00002
NM_000369.5(TSHR):c.*1559C>T rs1176236513 0.00002
NM_000369.5(TSHR):c.*319G>A rs886050857 0.00002
NM_000369.5(TSHR):c.2154T>C (p.Asp718=) rs760284465 0.00002
NM_000369.5(TSHR):c.611C>T (p.Ala204Val) rs760702366 0.00002
NM_000369.5(TSHR):c.733G>A (p.Gly245Ser) rs189506473 0.00002
NM_000369.5(TSHR):c.891G>A (p.Glu297=) rs765027542 0.00002
NM_000441.2(SLC26A4):c.*120G>A rs776063556 0.00002
NM_000441.2(SLC26A4):c.*840C>T rs886061889 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000453.3(SLC5A5):c.*422C>G rs886054294 0.00002
NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=) rs775752734 0.00002
NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser) rs371763681 0.00002
NM_001206744.2(TPO):c.2488G>A (p.Glu830Lys) rs145974595 0.00002
NM_001206744.2(TPO):c.2538G>C (p.Arg846=) rs747010460 0.00002
NM_001206744.2(TPO):c.587T>C (p.Leu196Ser) rs370357356 0.00002
NM_001206744.2(TPO):c.819A>G (p.Gln273=) rs771160950 0.00002
NM_001206744.2(TPO):c.95-4G>A rs757494249 0.00002
NM_001363711.2(DUOX2):c.4474C>T (p.Arg1492Cys) rs747720952 0.00002
NM_001363711.2(DUOX2):c.4537G>A (p.Gly1513Arg) rs748262140 0.00002
NM_001363711.2(DUOX2):c.841C>T (p.Leu281=) rs1481616548 0.00002
NM_003235.5(TG):c.1333C>T (p.Arg445Ter) rs748309986 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003235.5(TG):c.2737T>C (p.Ser913Pro) rs773538206 0.00002
NM_003235.5(TG):c.379G>A (p.Ala127Thr) rs761251603 0.00002
NM_003235.5(TG):c.3996G>T (p.Gln1332His) rs748883405 0.00002
NM_003235.5(TG):c.4243A>C (p.Lys1415Gln) rs757789897 0.00002
NM_003235.5(TG):c.555G>A (p.Ala185=) rs374108215 0.00002
NM_003235.5(TG):c.6797A>G (p.Gln2266Arg) rs754805539 0.00002
NM_003235.5(TG):c.7162G>A (p.Gly2388Arg) rs777005576 0.00002
NM_003235.5(TG):c.7573-5T>C rs762000057 0.00002
NM_003235.5(TG):c.7615T>C (p.Phe2539Leu) rs769168191 0.00002
NM_003235.5(TG):c.7647C>T (p.Gly2549=) rs200261320 0.00002
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_003466.4(PAX8):c.*789G>A rs886054789 0.00002
NM_003466.4(PAX8):c.1185G>A (p.Val395=) rs886054792 0.00002
NM_003466.4(PAX8):c.1275G>A (p.Leu425=) rs368814338 0.00002
NM_003466.4(PAX8):c.473C>T (p.Thr158Met) rs727504066 0.00002
NM_000369.2(TSHR):c.-166C>T rs1180169266 0.00001
NM_000369.5(TSHR):c.*1486C>T rs1891908275 0.00001
NM_000369.5(TSHR):c.*1898A>G rs886050862 0.00001
NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg) rs199702292 0.00001
NM_000369.5(TSHR):c.1479G>A (p.Gly493=) rs757106859 0.00001
NM_000369.5(TSHR):c.1656C>T (p.Leu552=) rs746360455 0.00001
NM_000369.5(TSHR):c.190C>T (p.Leu64=) rs1886292055 0.00001
NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser) rs763398101 0.00001
NM_000369.5(TSHR):c.615-6C>G rs886050854 0.00001
NM_000369.5(TSHR):c.692+3G>A rs552128204 0.00001
NM_000441.2(SLC26A4):c.*1277A>G rs560359006 0.00001
NM_000441.2(SLC26A4):c.*1517G>C rs2712205 0.00001
NM_000441.2(SLC26A4):c.*1960T>A rs886061893 0.00001
NM_000441.2(SLC26A4):c.*202G>A rs1005739547 0.00001
NM_000441.2(SLC26A4):c.*2065G>A rs1276655952 0.00001
NM_000441.2(SLC26A4):c.*2147G>A rs886061894 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667 0.00001
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) rs1791982304 0.00001
NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) rs1562818627 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794 0.00001
NM_000453.3(SLC5A5):c.*1027A>G rs1044706320 0.00001
NM_000453.3(SLC5A5):c.*136C>G rs886054283 0.00001
NM_000453.3(SLC5A5):c.*228A>G rs1235485172 0.00001
NM_000453.3(SLC5A5):c.*339C>T rs886054291 0.00001
NM_000453.3(SLC5A5):c.*897C>T rs886054297 0.00001
NM_000453.3(SLC5A5):c.-53C>T rs886054281 0.00001
NM_000453.3(SLC5A5):c.1192T>C (p.Cys398Arg) rs1421358195 0.00001
NM_000453.3(SLC5A5):c.1643G>A (p.Cys548Tyr) rs1389518713 0.00001
NM_000453.3(SLC5A5):c.1768-10T>A rs770323479 0.00001
NM_000453.3(SLC5A5):c.252C>T (p.Gly84=) rs370383956 0.00001
NM_000453.3(SLC5A5):c.357+11G>A rs751413692 0.00001
NM_000453.3(SLC5A5):c.649C>T (p.Arg217Cys) rs779661677 0.00001
NM_000453.3(SLC5A5):c.663G>A (p.Thr221=) rs375564091 0.00001
NM_000453.3(SLC5A5):c.915G>A (p.Val305=) rs1484899161 0.00001
NM_000453.3(SLC5A5):c.958G>A (p.Ala320Thr) rs142127951 0.00001
NM_001206744.2(TPO):c.*37T>C rs766791306 0.00001
NM_001206744.2(TPO):c.-10G>C rs531273408 0.00001
NM_001206744.2(TPO):c.1059C>T (p.His353=) rs886054899 0.00001
NM_001206744.2(TPO):c.1119G>A (p.Ala373=) rs1167826982 0.00001
NM_001206744.2(TPO):c.2007-12C>T rs546535782 0.00001
NM_001206744.2(TPO):c.2181G>T (p.Met727Ile) rs886054919 0.00001
NM_001206744.2(TPO):c.2436G>A (p.Ala812=) rs763673114 0.00001
NM_001206744.2(TPO):c.2691A>T (p.Gly897=) rs199796122 0.00001
NM_001206744.2(TPO):c.346A>G (p.Thr116Ala) rs1029043404 0.00001
NM_001206744.2(TPO):c.348G>A (p.Thr116=) rs374499898 0.00001
NM_001206744.2(TPO):c.524G>A (p.Arg175Gln) rs571832933 0.00001
NM_001363711.2(DUOX2):c.*1230C>T rs886051189 0.00001
NM_001363711.2(DUOX2):c.*353G>A rs1011108142 0.00001
NM_001363711.2(DUOX2):c.*857G>A rs566946041 0.00001
NM_001363711.2(DUOX2):c.-14-6C>T rs1350626533 0.00001
NM_001363711.2(DUOX2):c.1027G>A (p.Gly343Ser) rs367829065 0.00001
NM_001363711.2(DUOX2):c.1528C>T (p.Arg510Trp) rs776321578 0.00001
NM_001363711.2(DUOX2):c.160G>T (p.Gly54Cys) rs1456836359 0.00001
NM_001363711.2(DUOX2):c.1774G>A (p.Glu592Lys) rs1894233118 0.00001
NM_001363711.2(DUOX2):c.2291G>A (p.Arg764Gln) rs201884203 0.00001
NM_001363711.2(DUOX2):c.2334+4C>A rs756624208 0.00001
NM_001363711.2(DUOX2):c.2583T>A (p.Arg861=) rs144824844 0.00001
NM_001363711.2(DUOX2):c.2593A>C (p.Thr865Pro) rs886051194 0.00001
NM_001363711.2(DUOX2):c.2806C>T (p.Arg936Cys) rs759249545 0.00001
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln) rs772992566 0.00001
NM_001363711.2(DUOX2):c.317T>C (p.Val106Ala) rs758687948 0.00001
NM_001363711.2(DUOX2):c.325+13G>C rs201514147 0.00001
NM_001363711.2(DUOX2):c.3297C>T (p.Leu1099=) rs752327099 0.00001
NM_001363711.2(DUOX2):c.3689C>T (p.Ala1230Val) rs557220354 0.00001
NM_001363711.2(DUOX2):c.377C>T (p.Ala126Val) rs768688870 0.00001
NM_001363711.2(DUOX2):c.3807G>T (p.Lys1269Asn) rs754765692 0.00001
NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=) rs548949995 0.00001
NM_001363711.2(DUOX2):c.4171C>G (p.Pro1391Ala) rs771198569 0.00001
NM_001363711.2(DUOX2):c.4232G>A (p.Cys1411Tyr) rs766067391 0.00001
NM_001363711.2(DUOX2):c.4383G>A (p.Arg1461=) rs886051190 0.00001
NM_001363711.2(DUOX2):c.4405G>A (p.Glu1469Lys) rs376623263 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001363711.2(DUOX2):c.513+8G>C rs886051196 0.00001
NM_001363711.2(DUOX2):c.953C>A (p.Pro318His) rs555083063 0.00001
NM_002241.5(KCNJ10):c.*2530G>C rs886045400 0.00001
NM_003235.5(TG):c.1532A>G (p.Asn511Ser) rs192077055 0.00001
NM_003235.5(TG):c.160G>C (p.Glu54Gln) rs1303871583 0.00001
NM_003235.5(TG):c.1834C>A (p.Pro612Thr) rs552359043 0.00001
NM_003235.5(TG):c.1835C>G (p.Pro612Arg) rs772505924 0.00001
NM_003235.5(TG):c.2323A>C (p.Asn775His) rs746224898 0.00001
NM_003235.5(TG):c.2709G>C (p.Glu903Asp) rs755672784 0.00001
NM_003235.5(TG):c.3603G>A (p.Thr1201=) rs750765107 0.00001
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.3953A>G (p.Gln1318Arg) rs765831974 0.00001
NM_003235.5(TG):c.3964T>C (p.Leu1322=) rs886062707 0.00001
NM_003235.5(TG):c.3982C>T (p.Arg1328Cys) rs535936483 0.00001
NM_003235.5(TG):c.4023G>T (p.Leu1341=) rs774972059 0.00001
NM_003235.5(TG):c.4159+13G>A rs779146886 0.00001
NM_003235.5(TG):c.454C>T (p.Arg152Cys) rs372138161 0.00001
NM_003235.5(TG):c.488G>A (p.Ser163Asn) rs767567015 0.00001
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter) rs1255388549 0.00001
NM_003235.5(TG):c.5965A>G (p.Ile1989Val) rs752307255 0.00001
NM_003235.5(TG):c.5976-15C>T rs367703716 0.00001
NM_003235.5(TG):c.6245C>T (p.Pro2082Leu) rs755677679 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.6530G>A (p.Arg2177His) rs761804509 0.00001
NM_003235.5(TG):c.6576C>T (p.Leu2192=) rs765088305 0.00001
NM_003235.5(TG):c.6622C>T (p.Arg2208Trp) rs750846435 0.00001
NM_003235.5(TG):c.6681G>T (p.Gln2227His) rs761974404 0.00001
NM_003235.5(TG):c.66C>T (p.Phe22=) rs143647619 0.00001
NM_003235.5(TG):c.6770C>T (p.Ala2257Val) rs1472210977 0.00001
NM_003235.5(TG):c.7112G>A (p.Arg2371Gln) rs534667194 0.00001
NM_003235.5(TG):c.7202C>T (p.Ala2401Val) rs149050873 0.00001
NM_003235.5(TG):c.7239+3A>G rs775521942 0.00001
NM_003235.5(TG):c.7594C>T (p.Arg2532Trp) rs565384161 0.00001
NM_003235.5(TG):c.7657G>A (p.Asp2553Asn) rs535231848 0.00001
NM_003466.4(PAX8):c.*1977T>C rs886054786 0.00001
NM_003466.4(PAX8):c.*2326A>G rs886054783 0.00001
NM_003466.4(PAX8):c.*2409C>T rs886054782 0.00001
NM_003466.4(PAX8):c.*368G>C rs886054791 0.00001
NM_003466.4(PAX8):c.*697C>T rs1259968544 0.00001
NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) rs776082182 0.00001
NM_003466.4(PAX8):c.297C>T (p.Asn99=) rs762019177 0.00001
NM_003466.4(PAX8):c.441C>T (p.Cys147=) rs540878126 0.00001
NM_003466.4(PAX8):c.501C>A (p.Pro167=) rs61730086 0.00001
NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) rs886054794 0.00001
NM_003466.4(PAX8):c.898+12G>A rs373810250 0.00001
NM_000369.2(TSHR):c.-102C>T rs1886616129
NM_000369.5(TSHR):c.*1106G>T rs150923034
NM_000369.5(TSHR):c.*125A>G rs886050855
NM_000369.5(TSHR):c.*1317C>A rs886050859
NM_000369.5(TSHR):c.*137del rs886050856
NM_000369.5(TSHR):c.*1845T>G rs1891920836
NM_000369.5(TSHR):c.*1946C>T rs187891791
NM_000369.5(TSHR):c.*242C>T rs1891860763
NM_000369.5(TSHR):c.1191G>T (p.Val397=) rs781406064
NM_000369.5(TSHR):c.1270G>A (p.Val424Ile) rs587778742
NM_000369.5(TSHR):c.197C>A (p.Thr66Asn) rs1886292569
NM_000369.5(TSHR):c.2034T>C (p.Tyr678=) rs370709283
NM_000369.5(TSHR):c.406A>G (p.Thr136Ala) rs1888697548
NM_000369.5(TSHR):c.756G>C (p.Leu252=) rs1891604075
NM_000369.5(TSHR):c.758T>C (p.Ile253Thr) rs1891604207
NM_000441.1(SLC26A4):c.-40C>T rs1427132581
NM_000441.2(SLC26A4):c.*1558T>C rs1792362693
NM_000441.2(SLC26A4):c.*1563C>A rs943006929
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A rs1006081417
NM_000441.2(SLC26A4):c.*1700A>T rs1184586296
NM_000441.2(SLC26A4):c.*1789G>A rs190337640
NM_000441.2(SLC26A4):c.*1868C>G rs1037624606
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1945G>A rs75194818
NM_000441.2(SLC26A4):c.*201C>A rs761988423
NM_000441.2(SLC26A4):c.*2250_*2251del rs886061895
NM_000441.2(SLC26A4):c.*397T>C rs1792332700
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) rs1790616677
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2236-6T>C rs1409309832
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) rs1790885512
NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) rs1790887971
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) rs1790957218
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_000453.3(SLC5A5):c.*1282C>A rs929190184
NM_000453.3(SLC5A5):c.*238C>A rs183947586
NM_000453.3(SLC5A5):c.*239C>G rs551427934
NM_000453.3(SLC5A5):c.*826C>A rs886054296
NM_000453.3(SLC5A5):c.-107C>A rs555308071
NM_000453.3(SLC5A5):c.-46G>A rs993887182
NM_000453.3(SLC5A5):c.1084A>T (p.Met362Leu) rs752274081
NM_000453.3(SLC5A5):c.1176C>T (p.Leu392=) rs2094322065
NM_000453.3(SLC5A5):c.1340C>G (p.Ala447Gly) rs577079350
NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys) rs757216908
NM_000453.3(SLC5A5):c.1651+7A>C rs2030014553
NM_000453.3(SLC5A5):c.17C>T (p.Thr6Ile) rs2094296184
NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala) rs1055928965
NM_000453.3(SLC5A5):c.357+5C>T rs886054282
NM_000453.3(SLC5A5):c.423+13G>A rs376277243
NM_000453.3(SLC5A5):c.672G>A (p.Gln224=) rs770491099
NM_001045556.3(SLA):c.-319+6356G>A rs778963384
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.-2+19T>C rs886054871
NM_001206744.2(TPO):c.-69C>T rs1662565752
NM_001206744.2(TPO):c.1138G>A (p.Gly380Ser) rs766587495
NM_001206744.2(TPO):c.12C>T (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.1566T>A (p.Ala522=) rs17091745
NM_001206744.2(TPO):c.1857C>G (p.Ala619=) rs140322336
NM_001206744.2(TPO):c.1961C>T (p.Ala654Val) rs886054918
NM_001206744.2(TPO):c.2539G>A (p.Val847Met) rs1012881283
NM_001206744.2(TPO):c.2652C>G (p.Ile884Met) rs763019320
NM_001206744.2(TPO):c.266G>A (p.Arg89Gln) rs200794960
NM_001206744.2(TPO):c.2704G>T (p.Val902Leu) rs368181428
NM_001206744.2(TPO):c.443C>T (p.Ala148Val) rs138509145
NM_001206744.2(TPO):c.712G>T (p.Asp238Tyr) rs753687508
NM_001206744.2(TPO):c.820-15C>T rs1227856624
NM_001206744.2(TPO):c.905G>A (p.Gly302Asp) rs546895183
NM_001363711.2(DUOX2):c.*1244T>A rs886051188
NM_001363711.2(DUOX2):c.*1352G>A rs903025021
NM_001363711.2(DUOX2):c.*344A>G rs1893821368
NM_001363711.2(DUOX2):c.*405T>G rs1893819220
NM_001363711.2(DUOX2):c.*585A>G rs1893814244
NM_001363711.2(DUOX2):c.*72T>G rs1893828559
NM_001363711.2(DUOX2):c.*765C>T rs1485869265
NM_001363711.2(DUOX2):c.-46A>G rs886051199
NM_001363711.2(DUOX2):c.-47G>A rs886051200
NM_001363711.2(DUOX2):c.1461G>T (p.Gly487=) rs269860
NM_001363711.2(DUOX2):c.160+5G>T rs372199473
NM_001363711.2(DUOX2):c.1869G>A (p.Arg623=) rs1894220985
NM_001363711.2(DUOX2):c.202G>T (p.Gly68Cys) rs886051198
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu) rs8028305
NM_001363711.2(DUOX2):c.2257G>A (p.Glu753Lys) rs886051195
NM_001363711.2(DUOX2):c.2313C>G (p.Phe771Leu) rs1306818709
NM_001363711.2(DUOX2):c.2412C>T (p.Cys804=) rs376911583
NM_001363711.2(DUOX2):c.252C>G (p.Leu84=) rs1894468472
NM_001363711.2(DUOX2):c.2574T>C (p.Asp858=) rs1894149590
NM_001363711.2(DUOX2):c.2634C>T (p.Asp878=) rs370762371
NM_001363711.2(DUOX2):c.2703C>A (p.Ala901=) rs149413147
NM_001363711.2(DUOX2):c.299A>G (p.Asn100Ser) rs771688123
NM_001363711.2(DUOX2):c.3005+13C>T rs886051193
NM_001363711.2(DUOX2):c.3367G>A (p.Ala1123Thr) rs113632824
NM_001363711.2(DUOX2):c.3416-7C>G rs886051192
NM_001363711.2(DUOX2):c.341C>A (p.Ser114Tyr) rs886051197
NM_001363711.2(DUOX2):c.3494C>T (p.Pro1165Leu) rs886051191
NM_001363711.2(DUOX2):c.3515+8C>G rs1893999927
NM_001363711.2(DUOX2):c.3667C>G (p.His1223Asp) rs374103492
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3906G>C (p.Trp1302Cys) rs966315712
NM_001363711.2(DUOX2):c.3968C>A (p.Ala1323Glu) rs78020568
NM_001363711.2(DUOX2):c.4393C>T (p.Leu1465=) rs1893861413
NM_001363711.2(DUOX2):c.4396-15C>T rs1893856377
NM_001363711.2(DUOX2):c.4408C>A (p.Arg1470=) rs200785525
NM_001363711.2(DUOX2):c.4408C>T (p.Arg1470Trp) rs200785525
NM_001363711.2(DUOX2):c.4433G>A (p.Arg1478Gln) rs759342749
NM_001363711.2(DUOX2):c.4572G>T (p.Lys1524Asn) rs760374437
NM_001363711.2(DUOX2):c.70+15C>T rs138005153
NM_001363711.2(DUOX2):c.70+2C>G rs1316670460
NM_001363711.2(DUOX2):c.943+10C>A rs545715198
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_002241.5(KCNJ10):c.*1970GT[21] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[22] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[24] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[27] rs56656397
NM_002241.5(KCNJ10):c.*1970GT[28] rs56656397
NM_002241.5(KCNJ10):c.*2459T>G rs532869749
NM_003235.5(TG):c.1233G>A (p.Thr411=) rs886062702
NM_003235.5(TG):c.1364G>A (p.Arg455His) rs61741644
NM_003235.5(TG):c.1681A>G (p.Asn561Asp) rs886062703
NM_003235.5(TG):c.1683C>T (p.Asn561=) rs1022148195
NM_003235.5(TG):c.2036G>A (p.Gly679Asp) rs184474552
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) rs114115584
NM_003235.5(TG):c.2444G>A (p.Gly815Glu) rs1563913177
NM_003235.5(TG):c.2455C>T (p.Leu819Phe) rs886062704
NM_003235.5(TG):c.2761+2T>G rs886062705
NM_003235.5(TG):c.2963G>A (p.Arg988His) rs16893332
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.3173T>A (p.Phe1058Tyr) rs1817399017
NM_003235.5(TG):c.3217+14G>T rs565373165
NM_003235.5(TG):c.3241C>G (p.Arg1081Gly) rs745902921
NM_003235.5(TG):c.3639G>A (p.Pro1213=) rs372801449
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) rs114944116
NM_003235.5(TG):c.3912G>A (p.Lys1304=) rs886062706
NM_003235.5(TG):c.4256C>A (p.Ala1419Glu) rs374574993
NM_003235.5(TG):c.4379-13T>G rs886062708
NM_003235.5(TG):c.5554A>G (p.Thr1852Ala) rs1828596504
NM_003235.5(TG):c.6170C>A (p.Thr2057Asn) rs973259430
NM_003235.5(TG):c.698G>A (p.Gly233Glu) rs886062701
NM_003235.5(TG):c.7132C>T (p.Arg2378Trp) rs778035632
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.7414G>A (p.Val2472Met) rs61730222
NM_003235.5(TG):c.7573-5del rs759533889
NM_003235.5(TG):c.7632G>T (p.Gln2544His) rs1389900376
NM_003235.5(TG):c.7824C>A (p.Val2608=) rs886062710
NM_003235.5(TG):c.7921G>C (p.Glu2641Gln) rs748852916
NM_003235.5(TG):c.8189-14C>A rs374177941
NM_003235.5(TG):c.8189-14C>T rs374177941
NM_003235.5(TG):c.8203G>A (p.Gly2735Arg) rs777891366
NM_003235.5(TG):c.8205del (p.Gln2736fs) rs758002273
NM_003466.4(PAX8):c.*1060C>G rs1689067483
NM_003466.4(PAX8):c.*1186G>C rs937780091
NM_003466.4(PAX8):c.*1393A>G rs886054787
NM_003466.4(PAX8):c.*1490G>A rs773369036
NM_003466.4(PAX8):c.*1942C>T rs932801565
NM_003466.4(PAX8):c.*2231C>T rs888850438
NM_003466.4(PAX8):c.*2503_*2504dup rs751887254
NM_003466.4(PAX8):c.*2517C>T rs886054781
NM_003466.4(PAX8):c.*2527A>G rs886054780
NM_003466.4(PAX8):c.*290G>A rs144113497
NM_003466.4(PAX8):c.*343G>A rs182231841
NM_003466.4(PAX8):c.*472C>T rs149552415
NM_003466.4(PAX8):c.*527G>A rs1024776806
NM_003466.4(PAX8):c.*612G>A rs773276491
NM_003466.4(PAX8):c.*764C>T rs886054790
NM_003466.4(PAX8):c.*766C>T rs1689075892
NM_003466.4(PAX8):c.-75-4G>T rs1693988335
NM_003466.4(PAX8):c.191+6C>G rs1691352861
NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) rs1573469745
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) rs200737496
NM_003466.4(PAX8):c.858G>T (p.Gly286=) rs886054793
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400
NM_024077.5(SECISBP2):c.2320A>T (p.Lys774Ter)
NM_203395.2(IYD):c.-104T>A rs886061163
NM_203395.3(IYD):c.*1382CT[3] rs886061172
NM_203395.3(IYD):c.*3405del rs770486449
NM_203395.3(IYD):c.*461del rs61597872
NM_203395.3(IYD):c.*5785dup rs761967547
NM_203395.3(IYD):c.*672_*673delinsTG rs374913437

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