ClinVar Miner

List of variants in gene TTR reported as uncertain significance for Cardiovascular phenotype

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Total variants: 48
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HGVS dbSNP gnomAD frequency
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.140A>G (p.Asn47Ser) rs145551875 0.00010
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.385G>A (p.Ala129Thr) rs267607159 0.00005
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.431A>G (p.Asn144Ser) rs144965179 0.00003
NM_000371.4(TTR):c.-1G>C rs769343676 0.00002
NM_000371.4(TTR):c.-3A>G rs745422404 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000371.4(TTR):c.227A>G (p.His76Arg) rs78230119 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.336+5G>A rs2073511528 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.65C>T (p.Pro22Leu) rs1215630426 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
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.162A>C (p.Arg54Ser)
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)
NM_000371.4(TTR):c.179C>T (p.Thr60Ile)
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.201-5T>C
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
NM_000371.4(TTR):c.212A>G (p.Glu71Gly)
NM_000371.4(TTR):c.263T>G (p.Ile88Arg)
NM_000371.4(TTR):c.308G>A (p.Gly103Asp)
NM_000371.4(TTR):c.327G>T (p.Glu109Asp) rs876661395
NM_000371.4(TTR):c.328C>G (p.His110Asp) rs121918074
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.50T>C (p.Val17Ala) rs1237121765
NM_000371.4(TTR):c.70-1G>A
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)

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