ClinVar Miner

List of variants studied for ATTRV122I amyloidosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000258.2(MYL3):c.92G>A (p.Arg31His) rs199639940
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000371.3(TTR):c.*143G>C rs545271394
NM_000371.3(TTR):c.*191C>T rs556327750
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.*304C>T rs541989755
NM_000371.3(TTR):c.*345G>A rs58172837
NM_000371.3(TTR):c.-61G>A rs770403822
NM_000371.3(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.3(TTR):c.113A>G (p.Asp38Gly) rs121918098
NM_000371.3(TTR):c.116C>A (p.Ala39Asp)
NM_000371.3(TTR):c.118G>A (p.Val40Ile) rs121918093
NM_000371.3(TTR):c.11_13del (p.His4del)
NM_000371.3(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.3(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000371.3(TTR):c.127A>C (p.Ser43Arg)
NM_000371.3(TTR):c.128G>A (p.Ser43Asn)
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.133G>A (p.Ala45Thr) rs104894664
NM_000371.3(TTR):c.136A>G (p.Ile46Val) rs773584864
NM_000371.3(TTR):c.137T>C (p.Ile46Thr)
NM_000371.3(TTR):c.140A>G (p.Asn47Ser) rs145551875
NM_000371.3(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.3(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.3(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.3(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.3(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.3(TTR):c.157T>A (p.Phe53Ile) rs121918068
NM_000371.3(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.3(TTR):c.160A>G (p.Arg54Gly)
NM_000371.3(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.3(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.3(TTR):c.169G>A (p.Ala57Thr) rs1380447419
NM_000371.3(TTR):c.171_173TGA[1] (p.Asp59del) rs1555631238
NM_000371.3(TTR):c.173A>C (p.Asp58Ala)
NM_000371.3(TTR):c.185A>G (p.Glu62Gly) rs11541796
NM_000371.3(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.3(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.3(TTR):c.199G>A (p.Gly67Arg) rs387906523
NM_000371.3(TTR):c.199G>C (p.Gly67Arg) rs387906523
NM_000371.3(TTR):c.200+1G>A rs1567945731
NM_000371.3(TTR):c.200+2T>C rs1567945737
NM_000371.3(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.3(TTR):c.205A>G (p.Thr69Ala) rs121918081
NM_000371.3(TTR):c.206C>G (p.Thr69Ser) rs1555631387
NM_000371.3(TTR):c.208A>C (p.Ser70Arg) rs386134269
NM_000371.3(TTR):c.209G>T (p.Ser70Ile) rs121918080
NM_000371.3(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.3(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.3(TTR):c.212_217dup (p.Glu71_Ser72dup) rs1555631390
NM_000371.3(TTR):c.220_221inv (p.Glu74Ser) rs730881168
NM_000371.3(TTR):c.224T>C (p.Leu75Pro) rs121918079
NM_000371.3(TTR):c.229G>A (p.Gly77Arg)
NM_000371.3(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.3(TTR):c.233T>G (p.Leu78Arg) rs121918069
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.239C>T (p.Thr80Ile) rs1254341785
NM_000371.3(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.3(TTR):c.242A>G (p.Glu81Gly) rs1567946170
NM_000371.3(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.25C>T (p.Leu9Phe) rs762243340
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.263T>C (p.Ile88Thr) rs1567946180
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.270A>C (p.Lys90Asn) rs267607160
NM_000371.3(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.3(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.3(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.336+8T>C rs1176464590
NM_000371.3(TTR):c.337-3T>C rs774027595
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.3(TTR):c.350C>G (p.Ala117Gly) rs121918087
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.368G>A (p.Arg123His) rs148538950
NM_000371.3(TTR):c.370C>T (p.Arg124Cys) rs745834030
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.3(TTR):c.375C>T (p.Tyr125=) rs749079577
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.385G>A (p.Ala129Thr) rs267607159
NM_000371.3(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.3(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.3(TTR):c.405C>G (p.Ser135=) rs760153126
NM_000371.3(TTR):c.406T>C (p.Tyr136His)
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) rs121918096
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000371.3(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_000371.3(TTR):c.437A>G (p.Lys146Arg) rs536294863
NM_000371.3(TTR):c.62G>C (p.Gly21Ala) rs1469623969
NM_000371.3(TTR):c.69+1G>A
NM_000371.3(TTR):c.69G>C (p.Thr23=)
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000371.3(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) rs188323108
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860

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.