ClinVar Miner

List of variants in gene TTR studied for amyloidosis

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 354
Download table as spreadsheet
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_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_000371.3(TTR):c.*345G>A rs58172837 0.01182
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.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.328C>A (p.His110Asn) rs121918074 0.00040
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
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.371G>A (p.Arg124His) rs121918095 0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.3(TTR):c.*304C>T rs541989755 0.00016
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000371.3(TTR):c.*234G>C rs542619281 0.00014
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
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.*143G>C rs545271394 0.00008
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 0.00006
NM_000371.4(TTR):c.411C>T (p.Ser137=) rs759874627 0.00006
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.437A>G (p.Lys146Arg) rs536294863 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.375C>T (p.Tyr125=) rs749079577 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.267C>T (p.Tyr89=) rs757950308 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000371.4(TTR):c.405C>G (p.Ser135=) rs760153126 0.00003
NM_000371.4(TTR):c.431A>G (p.Asn144Ser) rs144965179 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
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.441A>G (p.Glu147=) rs370056601 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000371.4(TTR):c.*31G>A rs553309501 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
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.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val) rs773584864 0.00001
NM_000371.4(TTR):c.137T>C (p.Ile46Thr) rs1598844137 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn) rs915983905 0.00001
NM_000371.4(TTR):c.170C>A (p.Ala57Asp) rs1294297409 0.00001
NM_000371.4(TTR):c.200+15A>G rs1485205541 0.00001
NM_000371.4(TTR):c.200+17C>A rs767333203 0.00001
NM_000371.4(TTR):c.200+20T>C rs2073494875 0.00001
NM_000371.4(TTR):c.200+4A>G rs751512499 0.00001
NM_000371.4(TTR):c.201-16C>T rs941725460 0.00001
NM_000371.4(TTR):c.227A>G (p.His76Arg) rs78230119 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.246G>C (p.Glu82Asp) rs754635255 0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=) rs991342939 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.293A>T (p.Tyr98Phe) rs958191819 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.315C>A (p.Ser105=) rs11541787 0.00001
NM_000371.4(TTR):c.336+5G>A rs2073511528 0.00001
NM_000371.4(TTR):c.336+8T>C rs1176464590 0.00001
NM_000371.4(TTR):c.337-13T>C rs762691667 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.367C>T (p.Arg123Cys) rs371566010 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.65C>T (p.Pro22Leu) rs1215630426 0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919 0.00001
NM_000371.4(TTR):c.69+12T>C rs368643414 0.00001
NM_000371.4(TTR):c.69+5G>C rs1221178462 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.75C>T (p.Thr25=) rs750051388 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NC_000018.10:g.(?_31591160)_(31598685_?)dup
NC_000018.9:g.(?_29178511)_(29178638_?)dup
NM_000371.3(TTR):c.-102G>T rs967658213
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.108T>A (p.Val36=)
NM_000371.4(TTR):c.110T>C (p.Leu37Pro)
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
NM_000371.4(TTR):c.113A>G (p.Asp38Gly) rs121918098
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) rs779619795
NM_000371.4(TTR):c.114T>C (p.Asp38=) rs779619795
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.4(TTR):c.116C>G (p.Ala39Gly)
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)
NM_000371.4(TTR):c.117T>A (p.Ala39=)
NM_000371.4(TTR):c.119T>C (p.Val40Ala)
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
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.120C>T (p.Val40=)
NM_000371.4(TTR):c.121C>T (p.Arg41Ter) rs1004021945
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000371.4(TTR):c.124G>A (p.Gly42Ser) rs2144406621
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.12T>A (p.His4Gln) rs2144405297
NM_000371.4(TTR):c.131C>T (p.Pro44Leu) rs1415606768
NM_000371.4(TTR):c.133G>A (p.Ala45Thr) rs104894664
NM_000371.4(TTR):c.13C>G (p.Arg5Gly) rs144792001
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.147C>A (p.Ala49=)
NM_000371.4(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.148G>T (p.Val50Leu)
NM_000371.4(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.4(TTR):c.149T>G (p.Val50Gly) rs79977247
NM_000371.4(TTR):c.151C>G (p.His51Asp)
NM_000371.4(TTR):c.151C>T (p.His51Tyr)
NM_000371.4(TTR):c.155T>C (p.Val52Ala) rs2073493951
NM_000371.4(TTR):c.156G>A (p.Val52=) rs2144406775
NM_000371.4(TTR):c.157T>A (p.Phe53Ile) rs121918068
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.158T>G (p.Phe53Cys)
NM_000371.4(TTR):c.160A>C (p.Arg54=)
NM_000371.4(TTR):c.160A>G (p.Arg54Gly) rs1598844184
NM_000371.4(TTR):c.161G>C (p.Arg54Thr) rs1598844187
NM_000371.4(TTR):c.162A>C (p.Arg54Ser)
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
NM_000371.4(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.4(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.4(TTR):c.167C>A (p.Ala56Asp) rs2073494094
NM_000371.4(TTR):c.169G>A (p.Ala57Thr) rs1380447419
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del) rs1555631238
NM_000371.4(TTR):c.172G>C (p.Asp58His) rs2073494217
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.173A>T (p.Asp58Val) rs1598844213
NM_000371.4(TTR):c.174T>C (p.Asp58=)
NM_000371.4(TTR):c.176A>G (p.Asp59Gly)
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) rs113625622
NM_000371.4(TTR):c.180C>T (p.Thr60=)
NM_000371.4(TTR):c.182G>T (p.Trp61Leu) rs1567945702
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
NM_000371.4(TTR):c.185A>C (p.Glu62Ala) rs11541796
NM_000371.4(TTR):c.185A>G (p.Glu62Gly) rs11541796
NM_000371.4(TTR):c.186G>A (p.Glu62=)
NM_000371.4(TTR):c.186G>C (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.194C>A (p.Ala65Asp) rs730881169
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.195C>T (p.Ala65=) rs571695233
NM_000371.4(TTR):c.198T>G (p.Ser66=)
NM_000371.4(TTR):c.199G>A (p.Gly67Arg) rs387906523
NM_000371.4(TTR):c.199G>C (p.Gly67Arg) rs387906523
NM_000371.4(TTR):c.200+12A>G
NM_000371.4(TTR):c.200+14G>T rs2144406929
NM_000371.4(TTR):c.200+1G>A rs1567945731
NM_000371.4(TTR):c.200+2T>C rs1567945737
NM_000371.4(TTR):c.200+5G>T
NM_000371.4(TTR):c.200+7del
NM_000371.4(TTR):c.200+8G>T rs761675505
NM_000371.4(TTR):c.200G>A (p.Gly67Glu) rs121918090
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.200G>T (p.Gly67Val) rs121918090
NM_000371.4(TTR):c.201-10C>A
NM_000371.4(TTR):c.201-10C>T rs1380934184
NM_000371.4(TTR):c.201-16C>G
NM_000371.4(TTR):c.201-1G>A rs2144409397
NM_000371.4(TTR):c.201-4A>G
NM_000371.4(TTR):c.201-7C>T
NM_000371.4(TTR):c.201-9A>C
NM_000371.4(TTR):c.203A>C (p.Lys68Thr) rs2073510120
NM_000371.4(TTR):c.205A>G (p.Thr69Ala) rs121918081
NM_000371.4(TTR):c.206C>G (p.Thr69Ser) rs1555631387
NM_000371.4(TTR):c.206C>T (p.Thr69Ile) rs1555631387
NM_000371.4(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.4(TTR):c.208A>G (p.Ser70Gly)
NM_000371.4(TTR):c.209G>T (p.Ser70Ile) rs121918080
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.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) rs1555631390
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) rs2144409444
NM_000371.4(TTR):c.216T>C (p.Ser72=)
NM_000371.4(TTR):c.217G>A (p.Gly73Arg) rs2144409459
NM_000371.4(TTR):c.218G>A (p.Gly73Glu) rs121918097
NM_000371.4(TTR):c.21C>T (p.Leu7=) rs2144405313
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) rs1555631393
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.4(TTR):c.221A>C (p.Glu74Ala) rs1598845097
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.223C>A (p.Leu75Met) rs2073510448
NM_000371.4(TTR):c.223C>T (p.Leu75=) rs2073510448
NM_000371.4(TTR):c.224T>C (p.Leu75Pro) rs121918079
NM_000371.4(TTR):c.224T>G (p.Leu75Arg) rs121918079
NM_000371.4(TTR):c.229G>A (p.Gly77Arg) rs1598845111
NM_000371.4(TTR):c.231G>A (p.Gly77=) rs1555631396
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.233T>G (p.Leu78Arg) rs121918069
NM_000371.4(TTR):c.235A>G (p.Thr79Ala)
NM_000371.4(TTR):c.236C>A (p.Thr79Lys) rs730881163
NM_000371.4(TTR):c.236C>T (p.Thr79Ile)
NM_000371.4(TTR):c.239C>A (p.Thr80Asn)
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.4(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.249A>G (p.Glu83=)
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.251T>A (p.Phe84Tyr)
NM_000371.4(TTR):c.251T>C (p.Phe84Ser) rs121918099
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
NM_000371.4(TTR):c.258A>T (p.Glu86Asp) rs2073510816
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000371.4(TTR):c.260G>A (p.Gly87Glu)
NM_000371.4(TTR):c.264A>G (p.Ile88Met)
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.268A>C (p.Lys90Gln)
NM_000371.4(TTR):c.268A>G (p.Lys90Glu)
NM_000371.4(TTR):c.270A>C (p.Lys90Asn) rs267607160
NM_000371.4(TTR):c.270dup (p.Val91fs)
NM_000371.4(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.4(TTR):c.277A>G (p.Ile93Val) rs1598845164
NM_000371.4(TTR):c.285C>T (p.Thr95=)
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.296G>C (p.Trp99Ser) rs730881171
NM_000371.4(TTR):c.298A>G (p.Lys100Glu)
NM_000371.4(TTR):c.300G>A (p.Lys100=) rs2144409644
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.305T>C (p.Leu102Pro)
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) rs121918072
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.316C>G (p.Pro106Ala)
NM_000371.4(TTR):c.323A>G (p.His108Arg) rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.326A>G (p.Glu109Gly)
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.327G>A (p.Glu109=) rs876661395
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.330T>C (p.His110=)
NM_000371.4(TTR):c.333A>G (p.Ala111=)
NM_000371.4(TTR):c.335A>G (p.Glu112Gly)
NM_000371.4(TTR):c.336+10C>G
NM_000371.4(TTR):c.336+10C>T
NM_000371.4(TTR):c.337-12C>T
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.337-16C>G
NM_000371.4(TTR):c.337-19T>C
NM_000371.4(TTR):c.337-3T>G
NM_000371.4(TTR):c.337-527_349del rs2073525314
NM_000371.4(TTR):c.339G>A (p.Val113=)
NM_000371.4(TTR):c.340G>T (p.Val114Leu) rs2073528142
NM_000371.4(TTR):c.347C>G (p.Thr116Arg)
NM_000371.4(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.4(TTR):c.350C>A (p.Ala117Asp)
NM_000371.4(TTR):c.350C>G (p.Ala117Gly) rs121918087
NM_000371.4(TTR):c.356A>T (p.Asp119Val)
NM_000371.4(TTR):c.35C>A (p.Ala12Asp) rs2073488167
NM_000371.4(TTR):c.35C>T (p.Ala12Val)
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
NM_000371.4(TTR):c.365C>G (p.Pro122Arg) rs11541793
NM_000371.4(TTR):c.365C>T (p.Pro122Leu)
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
NM_000371.4(TTR):c.36T>C (p.Ala12=)
NM_000371.4(TTR):c.371G>T (p.Arg124Leu)
NM_000371.4(TTR):c.372C>G (p.Arg124=) rs780119793
NM_000371.4(TTR):c.373T>C (p.Tyr125His) rs2073528574
NM_000371.4(TTR):c.377C>A (p.Thr126Asn)
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.381T>C (p.Ile127=)
NM_000371.4(TTR):c.381T>G (p.Ile127Met) rs751430411
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) rs2073528679
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.385G>T (p.Ala129Ser) rs267607159
NM_000371.4(TTR):c.387C>A (p.Ala129=)
NM_000371.4(TTR):c.390G>A (p.Leu130=)
NM_000371.4(TTR):c.390G>C (p.Leu130=)
NM_000371.4(TTR):c.390G>T (p.Leu130=)
NM_000371.4(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.4(TTR):c.391C>T (p.Leu131=) rs121918073
NM_000371.4(TTR):c.396C>T (p.Ser132=) rs2144414307
NM_000371.4(TTR):c.397C>T (p.Pro133Ser) rs730881166
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.4(TTR):c.407A>C (p.Tyr136Ser) rs730881167
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)
NM_000371.4(TTR):c.418G>A (p.Ala140Thr)
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.419C>T (p.Ala140Val)
NM_000371.4(TTR):c.41T>C (p.Leu14Pro)
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.422T>C (p.Val141Ala)
NM_000371.4(TTR):c.423C>T (p.Val141=) rs557320637
NM_000371.4(TTR):c.425T>C (p.Val142Ala) rs2144414426
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_000371.4(TTR):c.433C>T (p.Pro145Ser)
NM_000371.4(TTR):c.434C>A (p.Pro145His)
NM_000371.4(TTR):c.45A>G (p.Val15=)
NM_000371.4(TTR):c.54T>C (p.Ser18=)
NM_000371.4(TTR):c.57G>A (p.Glu19=)
NM_000371.4(TTR):c.62G>C (p.Gly21Ala) rs1469623969
NM_000371.4(TTR):c.65del (p.Pro22fs)
NM_000371.4(TTR):c.66T>C (p.Pro22=) rs2144405395
NM_000371.4(TTR):c.69+10T>C rs1179187406
NM_000371.4(TTR):c.69+10del
NM_000371.4(TTR):c.69+13G>C rs2073488528
NM_000371.4(TTR):c.69+1G>A rs1598843674
NM_000371.4(TTR):c.69+4A>T
NM_000371.4(TTR):c.69+4_69+7del
NM_000371.4(TTR):c.69+6T>C
NM_000371.4(TTR):c.69+7G>A rs1453023289
NM_000371.4(TTR):c.69G>C (p.Thr23=) rs752579437
NM_000371.4(TTR):c.6T>G (p.Ala2=)
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-19G>C
NM_000371.4(TTR):c.70-19G>T rs548935944
NM_000371.4(TTR):c.70-20del
NM_000371.4(TTR):c.70-4C>T
NM_000371.4(TTR):c.70-5C>T rs757103675
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.70-9T>A
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
NM_000371.4(TTR):c.72C>T (p.Gly24=)
NM_000371.4(TTR):c.74C>T (p.Thr25Ile) rs2073492897
NM_000371.4(TTR):c.83C>T (p.Ser28Phe) rs1313375879
NM_000371.4(TTR):c.85A>G (p.Lys29Glu) rs1323375123
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
NM_000371.4(TTR):c.89G>A (p.Cys30Tyr) rs2144406508
NM_000371.4(TTR):c.91C>T (p.Pro31Ser) rs2144406521
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000371.4(TTR):c.97_99dup (p.Met33dup) rs768348156
NM_000371.4(TTR):c.98T>A (p.Met33Lys)
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600
NM_000371.4(TTR):c.[239C>T];[424G>A]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.