ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000369.5(TSHR):c.*1152T>A rs2288494 0.85456
NM_000369.5(TSHR):c.*245C>T rs7144481 0.85116
NM_003466.4(PAX8):c.*2309A>G rs1077855 0.75160
NM_003466.4(PAX8):c.*2478C>T rs2019137 0.41441
NM_003466.4(PAX8):c.*2146A>G rs895412 0.41369
NM_000369.5(TSHR):c.*1417T>C rs2288496 0.39155
NM_000369.5(TSHR):c.*1222G>C rs2288495 0.39107
NM_003466.4(PAX8):c.*1914C>G rs874898 0.32930
NM_003466.4(PAX8):c.*1006A>C rs1479 0.29017
NM_003466.4(PAX8):c.*1044A>C rs1478 0.28084
NM_000369.5(TSHR):c.*431T>C rs17630128 0.26762
NM_000369.5(TSHR):c.561T>C (p.Asn187=) rs2075179 0.26593
NM_000369.5(TSHR):c.545+13A>G rs2241119 0.26331
NM_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_000369.5(TSHR):c.*172C>A rs2268477 0.16427
NM_000369.5(TSHR):c.*909C>T rs2288493 0.15203
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_000369.5(TSHR):c.154C>A (p.Pro52Thr) rs2234919 0.04384
NM_000369.5(TSHR):c.*1813T>A rs58832257 0.02711
NM_000369.5(TSHR):c.*474G>T rs61266735 0.02495
NM_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_000369.5(TSHR):c.2232C>G (p.Asn744Lys) rs61743974 0.01750
NM_000369.5(TSHR):c.*18C>A rs77789619 0.01748
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_003466.4(PAX8):c.*1765G>A rs144041400 0.01281
NM_000549.5(TSHB):c.-13A>G rs77331078 0.01269
NM_000369.5(TSHR):c.*1289A>G rs150122093 0.01236
NM_000369.5(TSHR):c.*960T>C rs142517342 0.00759
NM_003466.4(PAX8):c.479-6C>T rs76792774 0.00703
NM_003466.4(PAX8):c.1087+4C>T rs111481416 0.00545
NM_000369.5(TSHR):c.*728A>G rs73342245 0.00532
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_003466.4(PAX8):c.*1807C>G rs138533336 0.00464
NM_000549.5(TSHB):c.*64T>C rs41312672 0.00368
NM_000369.5(TSHR):c.*1695T>C rs112187344 0.00326
NM_000369.5(TSHR):c.*1580A>G rs189084497 0.00313
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_003466.4(PAX8):c.885C>T (p.Tyr295=) rs112872760 0.00293
NM_000369.5(TSHR):c.171-11T>C rs145265345 0.00266
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_003466.4(PAX8):c.*703G>A rs141475261 0.00233
NM_003466.4(PAX8):c.*1457G>A rs532372672 0.00208
NM_000369.5(TSHR):c.*1807T>A rs183029344 0.00200
NM_000369.5(TSHR):c.357T>A (p.Pro119=) rs144084915 0.00168
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_003466.4(PAX8):c.*2276G>A rs189067014 0.00135
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) rs150602845 0.00132
NM_000369.5(TSHR):c.929G>A (p.Arg310His) rs139286618 0.00122
NM_000369.5(TSHR):c.1971C>T (p.Ser657=) rs143773384 0.00116
NM_000369.5(TSHR):c.*249A>C rs140533848 0.00090
NM_003466.4(PAX8):c.*204C>A rs575199444 0.00086
NM_003466.4(PAX8):c.129G>A (p.Arg43=) rs75444177 0.00076
NM_000369.5(TSHR):c.*400T>C rs143040631 0.00073
NM_003466.4(PAX8):c.*2368C>T rs150097052 0.00065
NM_003466.4(PAX8):c.*2320G>A rs138391311 0.00061
NM_003466.4(PAX8):c.*2044G>C rs143820836 0.00054
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu) rs141293178 0.00051
NM_003466.4(PAX8):c.*844C>T rs183711194 0.00048
NM_003466.4(PAX8):c.*1066G>A rs147293224 0.00047
NM_003466.4(PAX8):c.*845G>A rs536050658 0.00047
NM_003466.4(PAX8):c.*1029G>A rs527418580 0.00043
NM_003466.4(PAX8):c.*938C>G rs886054788 0.00041
NM_000369.5(TSHR):c.1290G>A (p.Leu430=) rs375393735 0.00039
NM_003466.4(PAX8):c.*2475C>T rs551249311 0.00038
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) rs61745409 0.00035
NM_000369.5(TSHR):c.-60G>A rs201252762 0.00031
NM_003466.4(PAX8):c.*897C>T rs745424024 0.00031
NM_003466.4(PAX8):c.1227C>G (p.Pro409=) rs190681011 0.00030
NM_003466.4(PAX8):c.1242C>T (p.Ser414=) rs200817352 0.00029
NM_003466.4(PAX8):c.*501C>T rs573072931 0.00028
NM_000369.5(TSHR):c.1206C>T (p.Ser402=) rs150524100 0.00026
NM_000549.5(TSHB):c.256G>A (p.Gly86Arg) rs190110651 0.00026
NM_003466.4(PAX8):c.1116C>T (p.Pro372=) rs189229644 0.00026
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) rs45499704 0.00025
NM_003466.4(PAX8):c.*708C>T rs768371093 0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) rs199939219 0.00025
NM_003466.4(PAX8):c.700G>A (p.Glu234Lys) rs201093713 0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_003466.4(PAX8):c.-63C>A rs866836744 0.00023
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_003466.4(PAX8):c.*2193G>A rs148816725 0.00021
NM_000369.5(TSHR):c.735C>G (p.Gly245=) rs146738314 0.00018
NM_000369.5(TSHR):c.*1262C>T rs879662665 0.00016
NM_003466.4(PAX8):c.898+11C>T rs377714129 0.00015
NM_000369.5(TSHR):c.1621A>G (p.Ile541Val) rs747680932 0.00014
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) rs199820445 0.00013
NM_003466.4(PAX8):c.*664T>C rs868036257 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_003466.4(PAX8):c.981C>T (p.Ser327=) rs552812059 0.00012
NM_000369.5(TSHR):c.1341C>T (p.Asn447=) rs777698828 0.00011
NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) rs199844947 0.00011
NM_000369.5(TSHR):c.1583G>A (p.Arg528His) rs571893270 0.00008
NM_003466.4(PAX8):c.324A>T (p.Arg108=) rs967278406 0.00008
NM_000369.5(TSHR):c.915T>A (p.Ser305Arg) rs142122217 0.00007
NM_003466.4(PAX8):c.*372C>T rs538590834 0.00007
NM_000369.5(TSHR):c.765A>G (p.Arg255=) rs777128238 0.00006
NM_003466.4(PAX8):c.*423C>T rs774457240 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_000369.5(TSHR):c.*182G>T rs373305430 0.00005
NM_000369.5(TSHR):c.1342G>A (p.Val448Ile) rs201889708 0.00004
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) rs368452281 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_003466.4(PAX8):c.*2192C>T rs886054785 0.00004
NM_003466.4(PAX8):c.*2312G>A rs886054784 0.00004
NM_003466.4(PAX8):c.602G>A (p.Ser201Asn) rs202183277 0.00004
NM_003466.4(PAX8):c.817G>A (p.Asp273Asn) rs757960433 0.00004
NM_000369.5(TSHR):c.*116G>A rs554104473 0.00003
NM_000369.5(TSHR):c.*1620C>G rs886050860 0.00003
NM_000369.5(TSHR):c.*458G>T rs1490089193 0.00003
NM_000369.5(TSHR):c.157A>C (p.Ser53Arg) rs886050853 0.00003
NM_000549.5(TSHB):c.223A>G (p.Arg75Gly) rs201857310 0.00003
NM_003466.4(PAX8):c.*2033C>T rs531249238 0.00003
NM_003466.4(PAX8):c.81G>A (p.Pro27=) rs372324872 0.00003
NM_000369.5(TSHR):c.*1053T>C rs995485227 0.00002
NM_000369.5(TSHR):c.*1496A>G rs997932391 0.00002
NM_000369.5(TSHR):c.*1559C>T rs1176236513 0.00002
NM_000369.5(TSHR):c.*319G>A rs886050857 0.00002
NM_000369.5(TSHR):c.2154T>C (p.Asp718=) rs760284465 0.00002
NM_000369.5(TSHR):c.611C>T (p.Ala204Val) rs760702366 0.00002
NM_000369.5(TSHR):c.733G>A (p.Gly245Ser) rs189506473 0.00002
NM_000369.5(TSHR):c.891G>A (p.Glu297=) rs765027542 0.00002
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_003466.4(PAX8):c.*789G>A rs886054789 0.00002
NM_003466.4(PAX8):c.1185G>A (p.Val395=) rs886054792 0.00002
NM_003466.4(PAX8):c.1275G>A (p.Leu425=) rs368814338 0.00002
NM_003466.4(PAX8):c.473C>T (p.Thr158Met) rs727504066 0.00002
NM_000369.2(TSHR):c.-166C>T rs1180169266 0.00001
NM_000369.5(TSHR):c.*1486C>T rs1891908275 0.00001
NM_000369.5(TSHR):c.*1898A>G rs886050862 0.00001
NM_000369.5(TSHR):c.1222T>C (p.Cys408Arg) rs199702292 0.00001
NM_000369.5(TSHR):c.1479G>A (p.Gly493=) rs757106859 0.00001
NM_000369.5(TSHR):c.1656C>T (p.Leu552=) rs746360455 0.00001
NM_000369.5(TSHR):c.190C>T (p.Leu64=) rs1886292055 0.00001
NM_000369.5(TSHR):c.2257G>A (p.Gly753Ser) rs763398101 0.00001
NM_000369.5(TSHR):c.615-6C>G rs886050854 0.00001
NM_000369.5(TSHR):c.692+3G>A rs552128204 0.00001
NM_003466.4(PAX8):c.*1977T>C rs886054786 0.00001
NM_003466.4(PAX8):c.*2326A>G rs886054783 0.00001
NM_003466.4(PAX8):c.*2409C>T rs886054782 0.00001
NM_003466.4(PAX8):c.*368G>C rs886054791 0.00001
NM_003466.4(PAX8):c.*697C>T rs1259968544 0.00001
NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) rs776082182 0.00001
NM_003466.4(PAX8):c.297C>T (p.Asn99=) rs762019177 0.00001
NM_003466.4(PAX8):c.441C>T (p.Cys147=) rs540878126 0.00001
NM_003466.4(PAX8):c.501C>A (p.Pro167=) rs61730086 0.00001
NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) rs886054794 0.00001
NM_003466.4(PAX8):c.898+12G>A rs373810250 0.00001
NM_000369.2(TSHR):c.-102C>T rs1886616129
NM_000369.5(TSHR):c.*1106G>T rs150923034
NM_000369.5(TSHR):c.*125A>G rs886050855
NM_000369.5(TSHR):c.*1317C>A rs886050859
NM_000369.5(TSHR):c.*1845T>G rs1891920836
NM_000369.5(TSHR):c.*1946C>T rs187891791
NM_000369.5(TSHR):c.*242C>T rs1891860763
NM_000369.5(TSHR):c.1191G>T (p.Val397=) rs781406064
NM_000369.5(TSHR):c.1270G>A (p.Val424Ile) rs587778742
NM_000369.5(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.197C>A (p.Thr66Asn) rs1886292569
NM_000369.5(TSHR):c.2034T>C (p.Tyr678=) rs370709283
NM_000369.5(TSHR):c.406A>G (p.Thr136Ala) rs1888697548
NM_000369.5(TSHR):c.756G>C (p.Leu252=) rs1891604075
NM_000369.5(TSHR):c.758T>C (p.Ile253Thr) rs1891604207
NM_003466.4(PAX8):c.*1060C>G rs1689067483
NM_003466.4(PAX8):c.*1186G>C rs937780091
NM_003466.4(PAX8):c.*1393A>G rs886054787
NM_003466.4(PAX8):c.*1490G>A rs773369036
NM_003466.4(PAX8):c.*1942C>T rs932801565
NM_003466.4(PAX8):c.*2231C>T rs888850438
NM_003466.4(PAX8):c.*2517C>T rs886054781
NM_003466.4(PAX8):c.*2527A>G rs886054780
NM_003466.4(PAX8):c.*290G>A rs144113497
NM_003466.4(PAX8):c.*343G>A rs182231841
NM_003466.4(PAX8):c.*472C>T rs149552415
NM_003466.4(PAX8):c.*527G>A rs1024776806
NM_003466.4(PAX8):c.*612G>A rs773276491
NM_003466.4(PAX8):c.*764C>T rs886054790
NM_003466.4(PAX8):c.*766C>T rs1689075892
NM_003466.4(PAX8):c.-75-4G>T rs1693988335
NM_003466.4(PAX8):c.191+6C>G rs1691352861
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)
NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) rs1573469745
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu) rs200737496
NM_003466.4(PAX8):c.858G>T (p.Gly286=) rs886054793

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