ClinVar Miner

List of variants in gene TTR reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
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_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
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.411C>T (p.Ser137=) rs759874627 0.00006
NM_000371.4(TTR):c.437A>G (p.Lys146Arg) rs536294863 0.00005
NM_000371.4(TTR):c.375C>T (p.Tyr125=) rs749079577 0.00004
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_000371.4(TTR):c.405C>G (p.Ser135=) rs760153126 0.00003
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=) rs991342939 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.156G>A (p.Val52=) rs2144406775
NM_000371.4(TTR):c.387C>A (p.Ala129=)
NM_000371.4(TTR):c.420T>C (p.Ala140=)
NM_000371.4(TTR):c.438G>A (p.Lys146=)
NM_000371.4(TTR):c.70-4C>T
NM_000371.4(TTR):c.9T>C (p.Ser3=) rs1598843600

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.