ClinVar Miner

List of variants reported as pathogenic for thyroid gland disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
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_000441.2(SLC26A4):c.1001+1G>A rs80338849 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.1349G>A (p.Arg450His) rs189261858 0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 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_001206744.2(TPO):c.1786G>T (p.Glu596Ter) rs749174434 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) rs772348846 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter) rs754658907 0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 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_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 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.439A>G (p.Met147Val) rs760413427 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.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) rs121908082 0.00001
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter) rs759809305 0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) rs774713681 0.00001
NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter) rs368967911 0.00001
NM_001363711.2(DUOX2):c.1741C>T (p.Gln581Ter) rs778921174 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1873G>T (p.Glu625Ter)
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2027dup (p.Arg677fs)
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1336del (p.Gln446fs)
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
NM_001206744.2(TPO):c.796C>T (p.Gln266Ter)
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001363711.2(DUOX2):c.1275T>G (p.Tyr425Ter)
NM_001363711.2(DUOX2):c.1871del (p.Gly624fs)
NM_001363711.2(DUOX2):c.1883del (p.Lys628fs) rs200592893
NM_001363711.2(DUOX2):c.2202G>A (p.Trp734Ter)
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln) rs181461079
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3061C>T (p.Arg1021Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.3285_3286del (p.Ile1097fs)
NM_001363711.2(DUOX2):c.3325del (p.Leu1109fs)
NM_001363711.2(DUOX2):c.3475CTG[1] (p.Leu1160del)
NM_001363711.2(DUOX2):c.3540T>A (p.Tyr1180Ter)
NM_001363711.2(DUOX2):c.477del (p.Glu160fs)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001363711.2(DUOX2):c.943G>T (p.Gly315Ter)
NM_001363711.2(DUOX2):c.979G>T (p.Glu327Ter)
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_003235.5(TG):c.1076-1G>C rs1412480668
NM_003235.5(TG):c.1348del (p.Ser450fs)
NM_003235.5(TG):c.1351C>T (p.Arg451Ter) rs773142559
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
NM_003235.5(TG):c.274+2T>G
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
NM_003235.5(TG):c.416G>A (p.Trp139Ter) rs141306917
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_207581.4(DUOXA2):c.136del (p.Arg46fs)
NM_207581.4(DUOXA2):c.37C>T (p.Gln13Ter)

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