ClinVar Miner

List of variants in gene ADGRV1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter) rs199806093 0.00003
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln) rs765849229 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter) rs900228710 0.00001
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter) rs973342972 0.00001
NM_032119.4(ADGRV1):c.9623+1G>A rs749982150 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs) rs1759155995
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del) rs766355750
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.3151_3152del (p.Asp1051fs)
NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs) rs778288846
NM_032119.4(ADGRV1):c.6245_6249del (p.Thr2082fs)
NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG (p.Thr2264fs) rs1746377687
NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter)

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.