ClinVar Miner

List of variants in gene TTR studied for hyperthyroxinemia

Included ClinVar conditions (4):
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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.3(TTR):c.-61G>A rs770403822 0.00014
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
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_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_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_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 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_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

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