ClinVar Miner

List of variants in gene TTR reported as uncertain significance for not provided

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.-1G>C rs769343676 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.201-16C>T rs941725460 0.00001
NM_000371.4(TTR):c.25C>T (p.Leu9Phe) rs762243340 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.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000371.4(TTR):c.13C>G (p.Arg5Gly) rs144792001
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
NM_000371.4(TTR):c.193_194del (p.Ala65fs)
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.271del (p.Val91fs) rs1555631411
NM_000371.4(TTR):c.283A>T (p.Thr95Ser) rs730881170
NM_000371.4(TTR):c.296G>A (p.Trp99Ter) rs730881171
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.304C>T (p.Leu102Phe) rs1131692003
NM_000371.4(TTR):c.310A>C (p.Ile104Leu) rs781345808
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.365C>G (p.Pro122Arg) rs11541793
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.397C>T (p.Pro133Ser) rs730881166
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
NM_000371.4(TTR):c.434C>A (p.Pro145His)
NM_000371.4(TTR):c.50T>C (p.Val17Ala) rs1237121765
NM_000371.4(TTR):c.52T>G (p.Ser18Ala) rs730881172
NM_000371.4(TTR):c.69+2T>C rs2144405413
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) rs1313375879
NM_000371.4(TTR):c.85A>T (p.Lys29Ter)

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