ClinVar Miner

List of variants studied for ATTRV122I amyloidosis by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.148G>A (p.Val50Met) rs28933979
NM_000371.3(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.3(TTR):c.208A>C (p.Ser70Arg) rs386134269
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.233T>A (p.Leu78His) rs121918069
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
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.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) rs121918071
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.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) rs121918096
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083

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.