ClinVar Miner

Variants in gene TTR with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.310A>C (p.Ile104Leu) rs781345808
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108

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.