ClinVar Miner

List of variants studied for inherited thyroid metabolism disease by OMIM

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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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_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_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_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_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu) rs121909176 0.00003
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) rs121909180 0.00002
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_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_001354712.2(THRB):c.1148G>A (p.Arg383His) rs121918708 0.00001
NM_001354712.2(THRB):c.1313G>A (p.Arg438His) rs121918698 0.00001
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 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_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) rs137852685 0.00001
NM_203395.3(IYD):c.347T>C (p.Ile116Thr) rs121918139 0.00001
L325F
NG_009159.1:g.(?_270821)_(382671_?)del
NG_012930.1:g.7540_13728delins431
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_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_001354712.2(THRB):c.1009A>G (p.Thr337Ala) rs121918709
NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) rs387906515
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp) rs121918697
NM_001354712.2(THRB):c.1020G>C (p.Gln340His) rs121918688
NM_001354712.2(THRB):c.1033G>A (p.Gly345Ser) rs121918686
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg) rs121918686
NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp) rs28999970
NM_001354712.2(THRB):c.1034G>T (p.Gly345Val) rs28999970
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) rs28999971
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter) rs121918705
NM_001354712.2(THRB):c.1305dup (p.Ala436fs)
NM_001354712.2(THRB):c.1312del (p.Arg438fs) rs1553609179
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.1327A>G (p.Lys443Glu) rs121918692
NM_001354712.2(THRB):c.1336T>C (p.Cys446Arg) rs121918703
NM_001354712.2(THRB):c.1341dup (p.Thr448fs)
NM_001354712.2(THRB):c.1349T>A (p.Leu450His) rs121918701
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.1358C>A (p.Pro453His) rs121918687
NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala) rs121918704
NM_001354712.2(THRB):c.1376T>G (p.Phe459Cys) rs121918702
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr) rs121918694
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.929T>C (p.Met310Thr) rs121918699
NM_001354712.2(THRB):c.947G>A (p.Arg316His) rs121918695
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr) rs121918690
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001354712.2(THRB):c.959G>A (p.Arg320His) rs121918693
NM_001354712.2(THRB):c.959G>T (p.Arg320Leu) rs121918693
NM_001354712.2(THRB):c.964G>C (p.Asp322His) rs121918700
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) rs119472027
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_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_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518

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