ClinVar Miner

List of variants studied for congenital hypothyroidism by OMIM

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
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_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 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_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 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.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) rs121908085 0.00005
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.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter) rs121917847 0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341 0.00003
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 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_000369.5(TSHR):c.1170T>G (p.Cys390Trp) rs121908871 0.00001
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) rs121908869 0.00001
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000369.5(TSHR):c.545+3G>C rs786205080 0.00001
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) rs121908882 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000453.3(SLC5A5):c.1060A>C (p.Thr354Pro) rs121909174 0.00001
NM_000453.3(SLC5A5):c.816C>A (p.Cys272Ter) rs121909175 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.1943G>A (p.Arg648Gln) rs121908086 0.00001
NM_001206744.2(TPO):c.1955dup (p.Phe653fs) rs1491142370 0.00001
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) rs121908087 0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs) rs774713681 0.00001
NM_003235.5(TG):c.1143del (p.Tyr382fs) rs778849740 0.00001
NM_003235.5(TG):c.5686+1G>T rs374620255 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_003301.7(TRHR):c.392T>C (p.Ile131Thr) rs771222349 0.00001
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) rs137852685 0.00001
NM_024077.5(SECISBP2):c.1312A>T (p.Lys438Ter) rs119461977 0.00001
NM_024077.5(SECISBP2):c.1619G>A (p.Arg540Gln) rs119461976 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
NG_012930.1:g.7540_13728delins431
NM_000369.5(TSHR):c.1217_1234delinsCACG (p.Asn406fs) rs2140110277
NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn) rs121908868
NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro) rs121908885
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile) rs121908881
NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu) rs121908870
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg) rs121908884
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) rs761918916
NM_000369.5(TSHR):c.500T>A (p.Ile167Asn) rs121908862
NM_000369.5(TSHR):c.970C>T (p.Gln324Ter) rs121908867
NM_000441.2(SLC26A4):c.1002-4C>G rs2129315781
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) rs121908360
NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) rs1584344687
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) rs121909177
NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu) rs121909179
NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg) rs121909178
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668
NM_000549.5(TSHB):c.94G>T (p.Glu32Ter) rs121918669
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe) rs104893669
NM_001206744.2(TPO):c.1496del (p.Pro499fs) rs1573380429
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser) rs121908084
NM_001206744.2(TPO):c.2421dup (p.Cys808fs) rs760307139
NM_001206744.2(TPO):c.2512del (p.Cys838fs) rs1573459560
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) rs119472027
NM_001379150.1(IRS4):c.1772dup (p.Lys592fs) rs780982673
NM_001379150.1(IRS4):c.3161_3165del (p.Cys1054fs) rs1603336347
NM_001379150.1(IRS4):c.643G>T (p.Gly215Ter) rs760832986
NM_001555.5(IGSF1):c.2123_2149del (p.Ala708_Lys716del) rs1556181091
NM_001555.5(IGSF1):c.2233del (p.Glu745fs) rs398122920
NM_001555.5(IGSF1):c.2268dup (p.Arg757fs) rs1603404421
NM_001555.5(IGSF1):c.2303T>C (p.Leu768Pro) rs1603404413
NM_001555.5(IGSF1):c.2573C>T (p.Ser858Phe) rs397514622
NM_001555.5(IGSF1):c.2916G>A (p.Trp972Ter) rs398122919
NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs) rs398122921
NM_003235.5(TG):c.275-3C>G rs1587166863
NM_003235.5(TG):c.3229T>C (p.Cys1077Arg) rs137854433
NM_003235.5(TG):c.3733T>C (p.Cys1245Arg) rs121912647
NM_003235.5(TG):c.5690G>A (p.Cys1897Tyr) rs121912649
NM_003235.5(TG):c.5986T>A (p.Cys1996Ser) rs2076739
NM_003235.5(TG):c.6200-1G>C rs1587678058
NM_003235.5(TG):c.638+1G>A rs1587178555
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003466.4(PAX8):c.119A>C (p.Gln40Pro) rs104893656
NM_003466.4(PAX8):c.143C>T (p.Ser48Phe) rs121917719
NM_003466.4(PAX8):c.160A>G (p.Ser54Gly) rs104893660
NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr) rs104893659
NM_003466.4(PAX8):c.185T>G (p.Leu62Arg) rs104893658
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter) rs104893655
NM_003466.4(PAX8):c.92G>A (p.Arg31His) rs104893657
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_024077.5(SECISBP2):c.1212+29G>A rs730880269
NM_024077.5(SECISBP2):c.800dup (p.Gly268_Glu269insTer) rs1587875298
NM_199334.5(THRA):c.1110G>C (p.Lys370Asn) rs137853163
NM_199334.5(THRA):c.1176C>A (p.Cys392Ter) rs876657394
NM_199334.5(THRA):c.1193C>G (p.Pro398Arg) rs876657396
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys) rs876657395
NM_199334.5(THRA):c.134G>T (p.Ser45Ile) rs137853162
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518

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