ClinVar Miner

List of variants in gene ADGRV1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs) rs1561701900
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter) rs768589991
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs) rs1554125179
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs) rs1554072688
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs) rs794727347
NM_032119.4(ADGRV1):c.627del (p.Gly210fs) rs1554063934
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs) rs794727584

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.