ClinVar Miner

List of variants reported as likely pathogenic for Hereditary hemorrhagic telangiectasia type 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.690-1G>A rs1554810272

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.