ClinVar Miner

List of variants in gene PAX8 studied for thyroid hormone resistance syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
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_003466.4(PAX8):c.25+24T>C rs1867763 0.38004
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_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_003466.4(PAX8):c.*187A>G rs78802229 0.05117
NM_003466.4(PAX8):c.*627T>A rs111411733 0.01952
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu) rs3188996 0.01628
NM_003466.4(PAX8):c.*1765G>A rs144041400 0.01281
NM_003466.4(PAX8):c.479-6C>T rs76792774 0.00703
NM_003466.4(PAX8):c.1087+4C>T rs111481416 0.00545
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516
NM_003466.4(PAX8):c.*1807C>G rs138533336 0.00464
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_003466.4(PAX8):c.885C>T (p.Tyr295=) rs112872760 0.00293
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_003466.4(PAX8):c.404A>G (p.Lys135Arg) rs190431939 0.00146
NM_003466.4(PAX8):c.*2276G>A rs189067014 0.00135
NM_003466.4(PAX8):c.*204C>A rs575199444 0.00086
NM_003466.4(PAX8):c.129G>A (p.Arg43=) rs75444177 0.00076
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_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_003466.4(PAX8):c.*2475C>T rs551249311 0.00038
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
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_003466.4(PAX8):c.1116C>T (p.Pro372=) rs189229644 0.00026
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.*2193G>A rs148816725 0.00021
NM_003466.4(PAX8):c.898+11C>T rs377714129 0.00015
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_003466.4(PAX8):c.1267A>G (p.Ser423Gly) rs199844947 0.00011
NM_003466.4(PAX8):c.324A>T (p.Arg108=) rs967278406 0.00008
NM_003466.4(PAX8):c.*372C>T rs538590834 0.00007
NM_003466.4(PAX8):c.*423C>T rs774457240 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
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.817G>A (p.Asp273Asn) rs757960433 0.00004
NM_003466.4(PAX8):c.*2033C>T rs531249238 0.00003
NM_003466.4(PAX8):c.81G>A (p.Pro27=) rs372324872 0.00003
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.1277-10A>G rs893315047 0.00002
NM_003466.4(PAX8):c.473C>T (p.Thr158Met) rs727504066 0.00002
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.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) rs369313070 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.5C>T (p.Pro2Leu) rs886054794 0.00001
NM_003466.4(PAX8):c.898+12G>A rs373810250 0.00001
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.1189G>A (p.Gly397Arg)
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.160A>T (p.Ser54Cys) 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.191+6C>G rs1691352861
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.280G>A (p.Asp94Asn) rs1573469745
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter) rs104893655
NM_003466.4(PAX8):c.457_458del (p.Leu153fs) rs1690965885
NM_003466.4(PAX8):c.479-29C>A rs13015478
NM_003466.4(PAX8):c.858G>T (p.Gly286=) rs886054793
NM_003466.4(PAX8):c.92G>A (p.Arg31His) rs104893657

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