ClinVar Miner

List of variants in gene TG studied for thyroid gland disorder

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.68-26T>C rs180203 0.99463
NM_003235.5(TG):c.5401+49G>C rs2246611 0.80881
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_003235.5(TG):c.3082A>G (p.Met1028Val) rs853326 0.60247
NM_003235.5(TG):c.2334T>C (p.Pro778=) rs2069550 0.59900
NM_003235.5(TG):c.4002+39C>G rs853318 0.57632
NM_003235.5(TG):c.7589G>A (p.Arg2530Gln) rs1133076 0.56572
NM_003235.5(TG):c.4506T>C (p.Ala1502=) rs853304 0.55069
NM_003235.5(TG):c.7920C>T (p.Tyr2640=) rs2294024 0.49806
NM_003235.5(TG):c.3848-20T>C rs2261147 0.47593
NM_003235.5(TG):c.3935A>G (p.Asp1312Gly) rs2069556 0.47427
NM_003235.5(TG):c.5512G>A (p.Asp1838Asn) rs2069561 0.39534
NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) rs2076740 0.37641
NM_003235.5(TG):c.5921T>C (p.Met1974Thr) rs56230101 0.13536
NM_003235.5(TG):c.5119C>T (p.Pro1707Ser) rs61744678 0.07252
NM_003235.5(TG):c.5234-10T>C rs4736614 0.06877
NM_003235.5(TG):c.5549-9C>A rs77157347 0.05272
NM_003235.5(TG):c.5862A>G (p.Lys1954=) rs16904799 0.05269
NM_003235.5(TG):c.3217+11A>C rs79594547 0.04535
NM_003235.5(TG):c.6395C>T (p.Ser2132Leu) rs61741457 0.04126
NM_003235.5(TG):c.5907G>A (p.Pro1969=) rs17693031 0.03986
NM_003235.5(TG):c.7578T>A (p.Phe2526Leu) rs12114109 0.03807
NM_003235.5(TG):c.2443G>A (p.Gly815Arg) rs16904774 0.03645
NM_003235.5(TG):c.3933G>A (p.Ala1311=) rs16904786 0.03224
NM_003235.5(TG):c.5122A>G (p.Ile1708Val) rs61744679 0.02642
NM_003235.5(TG):c.5186A>C (p.Asp1729Ala) rs61744749 0.02641
NM_003235.5(TG):c.1332C>T (p.Ile444=) rs61741629 0.02324
NM_003235.5(TG):c.6055+7A>G rs73353474 0.02313
NM_003235.5(TG):c.6984C>G (p.Leu2328=) rs61745590 0.02022
NM_003235.5(TG):c.1821C>T (p.Thr607=) rs61742713 0.02018
NM_003235.5(TG):c.1543C>G (p.Gln515Glu) rs180222 0.01589
NM_003235.5(TG):c.5370A>G (p.Ile1790Met) rs73710715 0.01452
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) rs112749206 0.01445
NM_003235.5(TG):c.353C>T (p.Pro118Leu) rs114322847 0.01424
NM_003235.5(TG):c.6272A>G (p.Asp2091Gly) rs61743198 0.01391
NM_003235.5(TG):c.3494A>G (p.Tyr1165Cys) rs61746583 0.01329
NM_003235.5(TG):c.1958G>A (p.Gly653Asp) rs2069548 0.01198
NM_003235.5(TG):c.4365C>T (p.Asp1455=) rs57453794 0.01068
NM_003235.5(TG):c.199G>A (p.Gly67Ser) rs116340633 0.00924
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_003235.5(TG):c.2761+14T>C rs76286566 0.00834
NM_003235.5(TG):c.1890A>G (p.Gln630=) rs2228590 0.00831
NM_003235.5(TG):c.5219C>A (p.Thr1740Lys) rs16904791 0.00801
NM_003235.5(TG):c.1434G>A (p.Val478=) rs116254142 0.00692
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
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_003235.5(TG):c.3906G>A (p.Pro1302=) rs2294003 0.00435
NM_003235.5(TG):c.5856G>A (p.Arg1952=) rs115476696 0.00430
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_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_003235.5(TG):c.4484T>C (p.Val1495Ala) rs61740825 0.00330
NM_003235.5(TG):c.6783-3C>T rs143075252 0.00297
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_003235.5(TG):c.7083G>T (p.Ala2361=) rs116723711 0.00239
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_003235.5(TG):c.537A>G (p.Ser179=) rs114875802 0.00203
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) rs115436575 0.00198
NM_003235.5(TG):c.3583G>A (p.Gly1195Arg) rs138469414 0.00197
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_003235.5(TG):c.6351T>G (p.Thr2117=) rs145367055 0.00172
NM_003235.5(TG):c.7782C>T (p.Ile2594=) rs139055416 0.00169
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu) rs12549018 0.00164
NM_003235.5(TG):c.3035C>T (p.Pro1012Leu) rs115936153 0.00159
NM_003235.5(TG):c.4493C>T (p.Thr1498Met) rs74590117 0.00151
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_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_003235.5(TG):c.1075+8T>G rs184523779 0.00133
NM_003235.5(TG):c.3804C>T (p.Ser1268=) rs61747461 0.00130
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_003235.5(TG):c.426C>T (p.Asp142=) rs114477962 0.00113
NM_003235.5(TG):c.7737T>C (p.Ala2579=) rs145611717 0.00098
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003235.5(TG):c.4323G>A (p.Ser1441=) rs769654694 0.00085
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_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.5984A>G (p.Glu1995Gly) rs190914906 0.00058
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_003235.5(TG):c.1900G>A (p.Gly634Arg) rs116417639 0.00053
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00052
NM_003235.5(TG):c.6819G>A (p.Thr2273=) rs780709015 0.00049
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.2150G>A (p.Arg717Gln) rs200611812 0.00046
NM_003235.5(TG):c.4859C>T (p.Thr1620Met) rs115902639 0.00044
NM_003235.5(TG):c.1573G>A (p.Gly525Arg) rs140232663 0.00043
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) rs142998186 0.00042
NM_003235.5(TG):c.958C>T (p.Arg320Cys) rs138561283 0.00042
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003235.5(TG):c.8202C>T (p.Gly2734=) rs142157473 0.00040
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_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_003235.5(TG):c.6605C>G (p.Pro2202Arg) rs150133670 0.00035
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
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_003235.5(TG):c.5864-7T>C rs199728785 0.00027
NM_003235.5(TG):c.5375G>A (p.Arg1792His) rs140063357 0.00026
NM_003235.5(TG):c.198C>T (p.Asp66=) rs141082783 0.00025
NM_003235.5(TG):c.3001+6T>G rs372517082 0.00024
NM_003235.5(TG):c.4743C>T (p.Phe1581=) rs146574874 0.00022
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_003235.5(TG):c.6324G>A (p.Arg2108=) rs186519521 0.00020
NM_003235.5(TG):c.94C>T (p.Arg32Cys) rs371315184 0.00020
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_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_003235.5(TG):c.5071C>T (p.Arg1691Cys) rs375968742 0.00015
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_003235.5(TG):c.4257G>A (p.Ala1419=) rs116314916 0.00013
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00012
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.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_003235.5(TG):c.4990G>A (p.Val1664Met) rs180705321 0.00011
NM_003235.5(TG):c.6563-3C>T rs200211140 0.00011
NM_003235.5(TG):c.7020C>T (p.Phe2340=) rs756155224 0.00011
NM_003235.5(TG):c.5718C>T (p.Leu1906=) rs145744799 0.00010
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_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_003235.5(TG):c.7640T>A (p.Leu2547Gln) rs2979042 0.00008
NM_003235.5(TG):c.2018T>C (p.Met673Thr) rs140030169 0.00007
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 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_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.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_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.475C>T (p.Arg159Ter) rs759267330 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.6695C>T (p.Pro2232Leu) rs201514086 0.00004
NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr) rs1229345000 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_003235.4(TG):c.-55G>A rs1354715358 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.6701C>A (p.Ala2234Asp) rs370991693 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_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.3197G>A (p.Arg1066His) rs116119508 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_003235.5(TG):c.1143del (p.Tyr382fs) rs778849740 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.2276A>G (p.Tyr759Cys) rs766295732 0.00001
NM_003235.5(TG):c.2323A>C (p.Asn775His) rs746224898 0.00001
NM_003235.5(TG):c.2488C>G (p.Gln830Glu) rs2076737 0.00001
NM_003235.5(TG):c.2709G>C (p.Glu903Asp) rs755672784 0.00001
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) rs1016185504 0.00001
NM_003235.5(TG):c.3397G>A (p.Glu1133Lys) rs375727924 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.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 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.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.6770C>T (p.Ala2257Val) rs1472210977 0.00001
NM_003235.5(TG):c.6988G>A (p.Val2330Met) rs752587385 0.00001
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser) rs898275076 0.00001
NM_003235.5(TG):c.7112G>A (p.Arg2371Gln) rs534667194 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 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_003235.5(TG):c.7859G>A (p.Gly2620Asp) rs978923522 0.00001
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
NM_003235.5(TG):c.1072dup (p.Cys358fs)
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1233G>A (p.Thr411=) rs886062702
NM_003235.5(TG):c.1273A>G (p.Met425Val)
NM_003235.5(TG):c.1274T>C (p.Met425Thr)
NM_003235.5(TG):c.1348del (p.Ser450fs)
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) rs773142559
NM_003235.5(TG):c.1364G>A (p.Arg455His) rs61741644
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
NM_003235.5(TG):c.1451A>T (p.Asn484Ile)
NM_003235.5(TG):c.1502dup (p.Gln502fs)
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.1830_1831del (p.Gln610fs)
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
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.2134dup (p.Ala712fs) rs1815591671
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
NM_003235.5(TG):c.2200T>G (p.Ser734Ala) rs180223
NM_003235.5(TG):c.2234dup (p.Leu746fs) rs1815680018
NM_003235.5(TG):c.2239T>A (p.Ser747Thr)
NM_003235.5(TG):c.2266dup (p.Ser756fs)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) rs16904774
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.2639C>T (p.Pro880Leu) rs201893722
NM_003235.5(TG):c.266dup (p.Val90fs) rs1554649344
NM_003235.5(TG):c.2697G>C (p.Trp899Cys)
NM_003235.5(TG):c.274+2T>G
NM_003235.5(TG):c.275-3C>G rs1587166863
NM_003235.5(TG):c.275G>T (p.Cys92Phe) rs1313276149
NM_003235.5(TG):c.2761+11G>T rs77660463
NM_003235.5(TG):c.2761+1G>T
NM_003235.5(TG):c.2761+2T>G rs886062705
NM_003235.5(TG):c.2898del (p.Asn967fs)
NM_003235.5(TG):c.2936G>A (p.Arg979Gln)
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
NM_003235.5(TG):c.2963G>A (p.Arg988His) rs16893332
NM_003235.5(TG):c.2963G>C (p.Arg988Pro) rs16893332
NM_003235.5(TG):c.3001+2T>C
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
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.3229T>C (p.Cys1077Arg) rs137854433
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
NM_003235.5(TG):c.3241C>G (p.Arg1081Gly) rs745902921
NM_003235.5(TG):c.3331-2A>G
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp)
NM_003235.5(TG):c.3452del (p.Val1151fs) rs766130576
NM_003235.5(TG):c.3488del (p.Pro1163fs)
NM_003235.5(TG):c.3634+1G>A
NM_003235.5(TG):c.3639G>A (p.Pro1213=) rs372801449
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) rs121912647
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys)
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) rs114944116
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
NM_003235.5(TG):c.3912G>A (p.Lys1304=) rs886062706
NM_003235.5(TG):c.3G>T (p.Met1Ile) rs2132013784
NM_003235.5(TG):c.4014del (p.Phe1338fs)
NM_003235.5(TG):c.416G>A (p.Trp139Ter) rs141306917
NM_003235.5(TG):c.4256C>A (p.Ala1419Glu) rs374574993
NM_003235.5(TG):c.4357del (p.Ser1453fs)
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) rs989763340
NM_003235.5(TG):c.4379-13T>G rs886062708
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln)
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly)
NM_003235.5(TG):c.4644del (p.Arg1549fs)
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
NM_003235.5(TG):c.478+15G>A rs141561325
NM_003235.5(TG):c.479-2A>G
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe)
NM_003235.5(TG):c.5041+1G>T
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5234-30C>T rs2246624
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
NM_003235.5(TG):c.5549-1_5556del
NM_003235.5(TG):c.5554A>G (p.Thr1852Ala) rs1828596504
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu)
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) rs121912649
NM_003235.5(TG):c.5804del (p.Asn1935fs) rs1587618417
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) rs2076739
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.6170C>A (p.Thr2057Asn) rs973259430
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003235.5(TG):c.6200-1G>C rs1587678058
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro)
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
NM_003235.5(TG):c.6397+2T>A rs2130888037
NM_003235.5(TG):c.6444A>G (p.Gln2148=)
NM_003235.5(TG):c.649dup (p.Ala217fs) rs1814692109
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn)
NM_003235.5(TG):c.6562+1G>A
NM_003235.5(TG):c.6562+2T>A
NM_003235.5(TG):c.6562+2T>C
NM_003235.5(TG):c.6610del (p.Ser2204fs)
NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG
NM_003235.5(TG):c.6782+1G>T
NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)
NM_003235.5(TG):c.698G>A (p.Gly233Glu) rs886062701
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7036+2T>G
NM_003235.5(TG):c.7037-2del
NM_003235.5(TG):c.7132C>T (p.Arg2378Trp) rs778035632
NM_003235.5(TG):c.7220T>C (p.Phe2407Ser)
NM_003235.5(TG):c.7222C>T (p.Arg2408Trp)
NM_003235.5(TG):c.745+1_745+9delinsATC
NM_003235.5(TG):c.7573-5del rs759533889
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)
NM_003235.5(TG):c.7632G>T (p.Gln2544His) rs1389900376
NM_003235.5(TG):c.7663C>T (p.Arg2555Cys) rs370013278
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
NM_003235.5(TG):c.7824C>A (p.Val2608=) rs886062710
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_003235.5(TG):c.7847A>G (p.Asn2616Ser) rs10091530
NM_003235.5(TG):c.7847A>T (p.Asn2616Ile) rs10091530
NM_003235.5(TG):c.7863-1G>A
NM_003235.5(TG):c.7921G>C (p.Glu2641Gln) rs748852916
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) rs1852105706
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys)
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_003235.5(TG):c.946G>A (p.Val316Ile) rs1001892478
NM_003235.5(TG):c.961C>T (p.Arg321Ter)

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