ClinVar Miner

List of variants studied for hyperthyroxinemia

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000477.7(ALB):c.1668C>T (p.Leu556=) rs962004 0.50892
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000477.7(ALB):c.615+14G>T rs55861135 0.03126
NM_000477.7(ALB):c.271-8C>T rs55888080 0.01379
NM_000477.7(ALB):c.616-3T>C rs61375018 0.00846
NM_000477.7(ALB):c.843+10C>T rs56379403 0.00821
NM_000477.7(ALB):c.1608T>C (p.Asp536=) rs56042353 0.00602
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000477.7(ALB):c.*19C>T rs61332165 0.00276
NM_000477.7(ALB):c.1290-6T>C rs57705126 0.00234
NM_000477.7(ALB):c.1785+7C>T rs141131597 0.00234
NM_000477.7(ALB):c.612A>G (p.Pro204=) rs58639526 0.00205
NM_000477.7(ALB):c.891T>C (p.Ser297=) rs56167251 0.00187
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000477.7(ALB):c.1230T>C (p.Asn410=) rs35683929 0.00173
NM_000477.7(ALB):c.531A>T (p.Glu177Asp) rs149432908 0.00056
NM_000477.7(ALB):c.323A>G (p.Tyr108Cys) rs142714816 0.00052
NM_000477.7(ALB):c.1446C>T (p.Asn482=) rs59597814 0.00049
NM_000477.7(ALB):c.1191+11T>A rs78977679 0.00025
NM_000477.7(ALB):c.1434C>T (p.Ser478=) rs139400924 0.00024
NM_000477.7(ALB):c.-13C>T rs369763404 0.00021
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.3(TTR):c.-61G>A rs770403822 0.00014
NM_000477.7(ALB):c.1647A>G (p.Lys549=) rs142299078 0.00013
NM_000477.7(ALB):c.1011G>T (p.Lys337Asn) rs72552710 0.00011
NM_000477.7(ALB):c.648G>A (p.Ser216=) rs140065129 0.00011
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000477.5(ALB):c.67C>T (p.Arg23Cys) rs80008208 0.00009
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000477.7(ALB):c.843+11G>A rs57193077 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000477.7(ALB):c.*14A>C rs746946403 0.00006
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000477.7(ALB):c.1438G>A (p.Val480Ile) rs372174571 0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000477.7(ALB):c.1059-11A>G rs370277014 0.00004
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000477.7(ALB):c.109G>A (p.Asp37Asn) rs374543070 0.00003
NM_000477.7(ALB):c.1194C>T (p.Phe398=) rs770952660 0.00003
NM_000477.7(ALB):c.1472C>T (p.Thr491Met) rs776185501 0.00003
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000477.7(ALB):c.1150T>C (p.Cys384Arg) rs886059620 0.00002
NM_000477.7(ALB):c.1552G>A (p.Asp518Asn) rs75920790 0.00002
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.127A>C (p.Ser43Arg) rs11541800 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe) rs1322942118 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000477.7(ALB):c.*270C>G rs1276240492 0.00001
NM_000477.7(ALB):c.1073A>G (p.Tyr358Cys) rs537985931 0.00001
NM_000477.7(ALB):c.1166A>T (p.Asp389Val) rs78538497 0.00001
NM_000477.7(ALB):c.1479A>G (p.Val493=) rs775238949 0.00001
NM_000477.7(ALB):c.1680G>A (p.Lys560=) rs57636959 0.00001
NM_000477.7(ALB):c.1706A>G (p.Lys569Arg) rs757783694 0.00001
NM_000477.7(ALB):c.1731T>A (p.Ala577=) rs564649737 0.00001
NM_000477.7(ALB):c.231T>C (p.Cys77=) rs773743765 0.00001
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.11_13del (p.His4del) rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.37G>A (p.Gly13Arg) rs767889884
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000477.7(ALB):c.*209A>G rs1719136242
NM_000477.7(ALB):c.*88G>T rs11538204
NM_000477.7(ALB):c.1164A>G (p.Ala388=) rs17854155
NM_000477.7(ALB):c.1193T>C (p.Phe398Ser) rs1719009522
NM_000477.7(ALB):c.137+4A>C rs886059619
NM_000477.7(ALB):c.1429-9G>T rs373682659
NM_000477.7(ALB):c.1433C>G (p.Ser478Cys) rs1719060564
NM_000477.7(ALB):c.1508A>T (p.Glu503Val) rs886059621
NM_000477.7(ALB):c.1760A>G (p.Asp587Gly) rs1467772214
NM_000477.7(ALB):c.248C>G (p.Ala83Gly) rs200736287
NM_000477.7(ALB):c.248C>T (p.Ala83Val) rs200736287
NM_000477.7(ALB):c.269T>C (p.Leu90Pro) rs77892378
NM_000477.7(ALB):c.314G>A (p.Arg105His) rs764279820
NM_000477.7(ALB):c.725G>C (p.Arg242Pro) rs75002628
NM_000477.7(ALB):c.745A>C (p.Lys249Gln) rs79804069
NM_000477.7(ALB):c.913A>G (p.Lys305Glu) rs377046738

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