ClinVar Miner

List of variants in gene TTR reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000371.4(TTR):c.201-32C>T rs189979926 0.00417
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.4(TTR):c.69+30C>T rs377167174 0.00011
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.355G>A (p.Asp119Asn) rs76410435 0.00006
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.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.200+20T>C rs2073494875 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000371.4(TTR):c.120C>T (p.Val40=)
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.201-27C>A rs1315540051
NM_000371.4(TTR):c.205A>C (p.Thr69Pro)
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
NM_000371.4(TTR):c.47T>A (p.Phe16Tyr) rs1598843637
NM_000371.4(TTR):c.50T>C (p.Val17Ala) rs1237121765
NM_000371.4(TTR):c.85A>T (p.Lys29Ter)
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600

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