ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as uncertain significance for Telangiectasia, hereditary hemorrhagic, type 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00029
NM_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 0.00006
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_001114753.3(ENG):c.1389C>T (p.Ala463=) rs200168633 0.00004
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) rs765564489 0.00002
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) rs1830432509
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1282A>C (p.Asn428His) rs875989811
NM_001114753.3(ENG):c.1312-3C>G rs2131877153
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-127A>G
NM_001114753.3(ENG):c.1429-13C>G
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu) rs1178081923
NM_001114753.3(ENG):c.1614A>G (p.Thr538=) rs1247391985
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)

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.