ClinVar Miner

List of variants studied for arthrogryposis, renal dysfunction, and cholestasis 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_018668.5(VPS33B):c.403+2T>A rs769333468 0.00002
NM_018668.5(VPS33B):c.1509dup (p.Lys504fs) rs1209349503 0.00001
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.5(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.5(VPS33B):c.700+1G>A rs794726658
NM_018668.5(VPS33B):c.89T>C (p.Leu30Pro) rs121434385

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.