ClinVar Miner

List of variants reported as likely pathogenic for thyroid gland disorder

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 562
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) rs112749206 0.01445
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter) rs376983373 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_001363711.2(DUOX2):c.3006-2A>G rs371960046 0.00012
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_203395.3(IYD):c.658G>A (p.Ala220Thr) rs121918140 0.00011
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser) rs200138601 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 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_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.4081-1G>A rs549559724 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_024077.5(SECISBP2):c.182+1G>A rs1477854736 0.00002
NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter) rs774517670 0.00002
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) rs767239688 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) rs121908882 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1342-2A>C rs1413121429 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) rs778901860 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_001206744.2(TPO):c.1159G>A (p.Gly387Arg) rs753012199 0.00001
NM_001206744.2(TPO):c.391T>C (p.Ser131Pro) rs201800220 0.00001
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.2335-1G>C rs758001307 0.00001
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter) rs531536885 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys) rs755850268 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_021930.6(RINT1):c.1107+1G>T rs200989342 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1
GRCh37/hg19 11p15.2(chr11:14657389-14918308)x1
GRCh37/hg19 14q23.1(chr14:58737402-58884615)x1
GRCh37/hg19 14q23.1(chr14:58737402-58891576)x1
GRCh37/hg19 15q22.2(chr15:62128861-62340126)x1
GRCh37/hg19 15q22.2(chr15:62155282-62332980)x1
GRCh37/hg19 17q21.1(chr17:38146929-38153473)x1
GRCh37/hg19 2p21(chr2:45453858-45455897)x3
GRCh37/hg19 2p21(chr2:45454554-45457111)x3
NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
NC_000010.10:g.(?_43595901)_(43598083_?)del
NC_000010.11:g.(?_43100449)_(43102639_?)del
NM_000369.5(TSHR):c.1192T>G (p.Cys398Gly)
NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000369.5(TSHR):c.1465C>T (p.Gln489Ter)
NM_000369.5(TSHR):c.1582C>A (p.Arg528Ser)
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1777del (p.Ala593fs) rs2140112570
NM_000369.5(TSHR):c.1891T>G (p.Phe631Val)
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.1966G>A (p.Val656Ile)
NM_000369.5(TSHR):c.2066T>G (p.Val689Gly)
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.418del (p.Met140fs) rs1085307573
NM_000369.5(TSHR):c.485C>T (p.Pro162Leu)
NM_000369.5(TSHR):c.545+2_545+3del rs786204790
NM_000369.5(TSHR):c.755T>C (p.Leu252Pro)
NM_000369.5(TSHR):c.801_810del (p.Leu267fs)
NM_000369.5(TSHR):c.823G>A (p.Ala275Thr)
NM_000369.5(TSHR):c.881+1G>T
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)
NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1136_1148del (p.Ile379fs)
NM_000441.2(SLC26A4):c.1154dup (p.Ile386fs)
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) rs1057517042
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1191del (p.Phe398fs)
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) rs1057516354
NM_000441.2(SLC26A4):c.1252G>T (p.Gly418Ter)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp) rs1791675770
NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr) rs765939287
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1342-1G>T rs1057517298
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1375A>T (p.Lys459Ter)
NM_000441.2(SLC26A4):c.1411_1414del (p.Leu471fs)
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.1490del (p.Gly497fs)
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1539_1544+6del rs1057516535
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.164+1G>C rs1021962985
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>A rs397516420
NM_000441.2(SLC26A4):c.165-2A>G rs786204458
NM_000441.2(SLC26A4):c.1672A>C (p.Asn558His)
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T rs759414956
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) rs2129318096
NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)
NM_000441.2(SLC26A4):c.1790T>A (p.Leu597Ter)
NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)
NM_000441.2(SLC26A4):c.1803+1G>T
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) rs786204502
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) rs1057517161
NM_000441.2(SLC26A4):c.1956del (p.Val653fs)
NM_000441.2(SLC26A4):c.1966del (p.His656fs) rs1057516636
NM_000441.2(SLC26A4):c.196A>T (p.Lys66Ter)
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.202_203del (p.Leu68fs)
NM_000441.2(SLC26A4):c.2034+1G>A rs759683649
NM_000441.2(SLC26A4):c.2035-1G>C
NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)
NM_000441.2(SLC26A4):c.2062_2071del (p.Val688fs)
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) rs1057516796
NM_000441.2(SLC26A4):c.2089+2T>A rs1554361624
NM_000441.2(SLC26A4):c.2109_2110del (p.Glu704fs)
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2161A>G (p.Thr721Ala)
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.2184_2187del (p.Leu729fs)
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg) rs1345175795
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.255del (p.Ser86fs)
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.279T>G (p.Ser93Arg)
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.305-1G>T
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)
NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val) rs2129311246
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)
NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.454del (p.Val152fs) rs1554354801
NM_000441.2(SLC26A4):c.460_461del (p.Ser154fs)
NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)
NM_000441.2(SLC26A4):c.555_556del (p.Arg185fs)
NM_000441.2(SLC26A4):c.598del (p.Gln200fs)
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000441.2(SLC26A4):c.765+3A>T rs483353048
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)
NM_000441.2(SLC26A4):c.846T>A (p.Cys282Ter)
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) rs1057517246
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.915del (p.Ile305fs)
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.919-19_932del rs1554357206
NM_000441.2(SLC26A4):c.94T>C (p.Phe32Leu)
NM_000441.2(SLC26A4):c.991_1001+7delinsCCCCA
NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]
NM_000453.3(SLC5A5):c.1242+2T>G
NM_000453.3(SLC5A5):c.1340dup (p.Leu449fs)
NM_000453.3(SLC5A5):c.1459_1460del (p.Val488fs)
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
NM_000453.3(SLC5A5):c.1605_1618del (p.Thr536fs)
NM_000453.3(SLC5A5):c.1767+1G>C
NM_000453.3(SLC5A5):c.1768-1G>C
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
NM_000453.3(SLC5A5):c.357+1G>A
NM_000453.3(SLC5A5):c.371G>A (p.Arg124His)
NM_000453.3(SLC5A5):c.410_414del (p.Tyr137fs)
NM_000453.3(SLC5A5):c.679del (p.Ser227fs)
NM_000453.3(SLC5A5):c.699-2A>G
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg) rs2094311069
NM_000453.3(SLC5A5):c.969+1G>A
NM_000453.3(SLC5A5):c.970-7_980delinsA
NM_000453.3(SLC5A5):c.970-9_970dup
NM_000549.5(TSHB):c.-1_5del (p.Met1_Thr2del)
NM_000549.5(TSHB):c.108_109del (p.Ala37fs) rs2101008674
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668
NM_000549.5(TSHB):c.230del (p.Phe77fs)
NM_000549.5(TSHB):c.315T>A (p.Cys105Ter)
NM_001079668.3(NKX2-1):c.572G>T (p.Arg191Leu)
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter)
NM_001206744.2(TPO):c.1208del (p.Leu403fs)
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) rs1057518950
NM_001206744.2(TPO):c.1598-2A>C
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
NM_001206744.2(TPO):c.1753dup (p.Asp585fs)
NM_001206744.2(TPO):c.1768+1_1768+9dup rs1385139268
NM_001206744.2(TPO):c.179+2T>C
NM_001206744.2(TPO):c.1999G>A (p.Gly667Ser)
NM_001206744.2(TPO):c.2044C>T (p.Gln682Ter)
NM_001206744.2(TPO):c.2088_2089del (p.Cys696_Asp697delinsTer)
NM_001206744.2(TPO):c.2141del (p.Phe714fs)
NM_001206744.2(TPO):c.2311G>A (p.Gly771Arg)
NM_001206744.2(TPO):c.2314_2332del (p.Tyr772fs)
NM_001206744.2(TPO):c.2315A>G (p.Tyr772Cys) rs1382787497
NM_001206744.2(TPO):c.2473T>C (p.Cys825Arg) rs2125001180
NM_001206744.2(TPO):c.251del (p.Ser84fs)
NM_001206744.2(TPO):c.2618+1G>T
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
NM_001206744.2(TPO):c.2673_2692dup (p.Lys898delinsIleProSerTer)
NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter)
NM_001206744.2(TPO):c.2693del (p.Lys898fs)
NM_001206744.2(TPO):c.2749-1G>A
NM_001206744.2(TPO):c.419del (p.Pro140fs)
NM_001206744.2(TPO):c.453C>A (p.Tyr151Ter)
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001206744.2(TPO):c.482+1G>A
NM_001206744.2(TPO):c.543T>G (p.Tyr181Ter)
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly) rs1667768234
NM_001206744.2(TPO):c.736C>T (p.Gln246Ter)
NM_001206744.2(TPO):c.870C>A (p.Tyr290Ter)
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001354712.2(THRB):c.1021C>G (p.Leu341Val) rs1553610984
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys) rs121918686
NM_001354712.2(THRB):c.1045G>A (p.Val349Met)
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1325T>C (p.Met442Thr)
NM_001354712.2(THRB):c.1347dup (p.Leu450fs)
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val) rs1057519028
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)
NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001354712.2(THRB):c.824TCA[1] (p.Ile276del)
NM_001354712.2(THRB):c.977A>G (p.Glu326Gly) rs1060499695
NM_001363711.2(DUOX2):c.1131+1G>A
NM_001363711.2(DUOX2):c.1237_1241del (p.Tyr413fs)
NM_001363711.2(DUOX2):c.1242G>A (p.Trp414Ter)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1300_1320del (p.Arg434_Ser440del)
NM_001363711.2(DUOX2):c.1304A>G (p.Asp435Gly)
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
NM_001363711.2(DUOX2):c.1461_1462delinsA (p.Leu489fs) rs2141153740
NM_001363711.2(DUOX2):c.1464del (p.Leu489fs)
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
NM_001363711.2(DUOX2):c.1506dup (p.Ile503fs)
NM_001363711.2(DUOX2):c.1519C>T (p.Gln507Ter)
NM_001363711.2(DUOX2):c.1648dup (p.Ile550fs)
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.1831+2T>G
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2104_2106del (p.Gly702del) rs779340990
NM_001363711.2(DUOX2):c.2201G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2327_2328del (p.Phe776fs)
NM_001363711.2(DUOX2):c.2413G>T (p.Glu805Ter)
NM_001363711.2(DUOX2):c.2560+2T>C
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2852-2A>G
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3005+1G>T
NM_001363711.2(DUOX2):c.3006-1G>C
NM_001363711.2(DUOX2):c.3010_3016del (p.Ala1004fs)
NM_001363711.2(DUOX2):c.3033C>A (p.Tyr1011Ter) rs765438725
NM_001363711.2(DUOX2):c.3085C>T (p.Gln1029Ter)
NM_001363711.2(DUOX2):c.316dup (p.Val106fs)
NM_001363711.2(DUOX2):c.3264_3267del (p.Val1090fs) rs2141144285
NM_001363711.2(DUOX2):c.3340del (p.Leu1114fs) rs748194265
NM_001363711.2(DUOX2):c.3391G>T (p.Ala1131Ser)
NM_001363711.2(DUOX2):c.3416-1G>A rs2141143881
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs) rs1566978577
NM_001363711.2(DUOX2):c.3516_3531del
NM_001363711.2(DUOX2):c.3646dup (p.Arg1216fs)
NM_001363711.2(DUOX2):c.3657G>A (p.Trp1219Ter)
NM_001363711.2(DUOX2):c.3667del (p.His1223fs) rs754179275
NM_001363711.2(DUOX2):c.3709_3711dup (p.Ser1237_Tyr1238insSer)
NM_001363711.2(DUOX2):c.3751del (p.Leu1251fs) rs1566971699
NM_001363711.2(DUOX2):c.3862C>T (p.Gln1288Ter)
NM_001363711.2(DUOX2):c.4000C>T (p.Arg1334Trp)
NM_001363711.2(DUOX2):c.4052del (p.Lys1351fs)
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.4152del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4157del (p.Gly1386fs)
NM_001363711.2(DUOX2):c.4239+1G>A
NM_001363711.2(DUOX2):c.4524+1G>C
NM_001363711.2(DUOX2):c.4524+1dup rs578014563
NM_001363711.2(DUOX2):c.4552G>C (p.Gly1518Arg)
NM_001363711.2(DUOX2):c.457C>T (p.Gln153Ter)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) rs772809435
NM_001363711.2(DUOX2):c.70+5G>C
NM_001363711.2(DUOX2):c.73A>C (p.Ser25Arg)
NM_001363711.2(DUOX2):c.944-2A>T
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479
NM_001555.5(IGSF1):c.1614G>A (p.Trp538Ter)
NM_001555.5(IGSF1):c.2042-1_2042del
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001555.5(IGSF1):c.3868C>T (p.Arg1290Ter)
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys) rs1647927494
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
NM_003235.5(TG):c.1072dup (p.Cys358fs)
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
NM_003235.5(TG):c.1502dup (p.Gln502fs)
NM_003235.5(TG):c.1830_1831del (p.Gln610fs)
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
NM_003235.5(TG):c.2134dup (p.Ala712fs) rs1815591671
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
NM_003235.5(TG):c.2234dup (p.Leu746fs) rs1815680018
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.2761+1G>T
NM_003235.5(TG):c.2898del (p.Asn967fs)
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
NM_003235.5(TG):c.3001+2T>C
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
NM_003235.5(TG):c.3331-2A>G
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.4014del (p.Phe1338fs)
NM_003235.5(TG):c.4357del (p.Ser1453fs)
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
NM_003235.5(TG):c.4644del (p.Arg1549fs)
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
NM_003235.5(TG):c.479-2A>G
NM_003235.5(TG):c.5041+1G>T
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
NM_003235.5(TG):c.5549-1_5556del
NM_003235.5(TG):c.5804del (p.Asn1935fs) rs1587618417
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.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.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.745+1_745+9delinsATC
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_003235.5(TG):c.7863-1G>A
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003301.7(TRHR):c.597_598del (p.Phe199fs)
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) rs104893660
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) rs1691155605
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)
NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) rs1691154033
NM_003466.4(PAX8):c.237dup (p.Lys80fs) rs2104498488
NM_003466.4(PAX8):c.398G>A (p.Arg133Gln)
NM_003466.4(PAX8):c.91C>T (p.Arg31Cys) rs761612832
NM_004387.4(NKX2-5):c.335-204del rs1761374435
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004473.4(FOXE1):c.346C>A (p.Arg116Ser)
NM_004733.4(SLC33A1):c.963+1G>A rs1266904735
NM_004985.5(KRAS):c.445A>T (p.Arg149Ter) rs2141505552
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) rs1553657429
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) rs2154596304
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1648T>C (p.Phe550Leu)
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)
NM_015965.7(NDUFA13):c.94+1G>A
NM_020975.6(RET):c.1522+2T>C rs2132777891
NM_020975.6(RET):c.1622G>A (p.Cys541Tyr)
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
NM_020975.6(RET):c.1858T>A (p.Cys620Ser) rs77316810
NM_020975.6(RET):c.1879+1G>A rs1588873476
NM_020975.6(RET):c.1893_1898del (p.Asp631_Leu633delinsGlu) rs121913307
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.1998delinsTTCT (p.Lys666delinsAsnSer) rs377767440
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2672C>T (p.Ser891Leu)
NM_020975.6(RET):c.2711C>T (p.Ser904Phe) rs267607011
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020975.6(RET):c.2914A>G (p.Arg972Gly) rs76534745
NM_020975.6(RET):c.3040-2A>G rs2133032257
NM_020975.6(RET):c.3222dup (p.Val1075fs) rs1838374810
NM_020975.6(RET):c.74-2A>T rs2132656224
NM_020975.6(RET):c.95C>T (p.Ser32Leu) rs76764689
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_021930.6(RINT1):c.1021C>G (p.Leu341Val) rs151055286
NM_177438.3(DICER1):c.2257-2A>G rs2140034081
NM_177438.3(DICER1):c.2436+1dup
NM_177438.3(DICER1):c.3093+1G>A
NM_177438.3(DICER1):c.3988del (p.Tyr1330fs) rs1595363945
NM_177438.3(DICER1):c.4849del (p.Leu1617fs)
NM_177438.3(DICER1):c.5135dup (p.Leu1712fs) rs2139815576
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_199334.5(THRA):c.1141C>T (p.His381Tyr)
NM_199334.5(THRA):c.518A>G (p.Glu173Gly) rs1987264133
NM_199334.5(THRA):c.788C>T (p.Ala263Val) rs1555545033
NM_199334.5(THRA):c.818C>A (p.Thr273Asn) rs2145085082
NM_199334.5(THRA):c.896T>C (p.Ile299Thr)
NM_203395.3(IYD):c.293_306del (p.Asn98fs)
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203395.3(IYD):c.523_524insTT (p.Lys175fs)
NM_203395.3(IYD):c.567del (p.Ile190fs)
NM_203395.3(IYD):c.624del (p.Val209fs) rs763040556
NM_203395.3(IYD):c.736C>T (p.Arg246Ter)
NM_206937.2(LIG4):c.1673A>C (p.Gln558Pro) rs751409106
NM_207581.4(DUOXA2):c.113_119del (p.Phe38fs)
NM_207581.4(DUOXA2):c.147+1G>T
NM_207581.4(DUOXA2):c.1A>G (p.Met1Val)
NM_207581.4(DUOXA2):c.205+1G>A
NM_207581.4(DUOXA2):c.205+1G>T
NM_207581.4(DUOXA2):c.228G>C (p.Trp76Cys)
NM_207581.4(DUOXA2):c.228G>T (p.Trp76Cys)
NM_207581.4(DUOXA2):c.340+1G>A
NM_207581.4(DUOXA2):c.382G>T (p.Glu128Ter)
NM_207581.4(DUOXA2):c.396G>A (p.Trp132Ter)
NM_207581.4(DUOXA2):c.465_466dup (p.Tyr156fs)
NM_207581.4(DUOXA2):c.611T>C (p.Leu204Pro)
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_207581.4(DUOXA2):c.753G>A (p.Trp251Ter)
NM_207581.4(DUOXA2):c.768del (p.Gly257fs)
NM_207581.4(DUOXA2):c.769+2T>A
NM_207581.4(DUOXA2):c.770-19_780del
NM_207581.4(DUOXA2):c.860del (p.Lys287fs)
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) rs974496530

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