ClinVar Miner

List of variants reported as pathogenic for Hereditary hemorrhagic telangiectasia type 1 by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.127814980_127830815del
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_000118.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.689+1G>A rs1588582594
NM_000118.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_000118.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter)
NM_001114753.3(ENG):c.1273-2A>T
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter)
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs)
NM_001114753.3(ENG):c.146del (p.Val49fs)
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
NM_001114753.3(ENG):c.1490dup (p.Leu497fs)
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1626del (p.Thr544fs)
NM_001114753.3(ENG):c.164del (p.Ala55fs)
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
NM_001114753.3(ENG):c.370del (p.Leu124fs)
NM_001114753.3(ENG):c.39del (p.Leu14fs)
NM_001114753.3(ENG):c.496del (p.Gln166fs)
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.524-1_689+1del
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
NM_001114753.3(ENG):c.667dup (p.Val223fs)
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.690-2A>G
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
NM_001114753.3(ENG):c.817-1G>A
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
NM_001114753.3(ENG):c.967_968del (p.Val323fs)
Single allele

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.