ClinVar Miner

List of variants in gene TTR reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
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.371G>A (p.Arg124His) rs121918095 0.00019
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.437A>G (p.Lys146Arg) rs536294863 0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 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.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000371.4(TTR):c.201-16C>T rs941725460 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000371.4(TTR):c.*9TCC[1] rs766223850
NM_000371.4(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
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.303A>C (p.Ala101=) rs1555631418
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.372C>G (p.Arg124=) rs780119793
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.69+6T>C
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)

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