ClinVar Miner

List of variants in gene RAB23 reported as uncertain significance for Carpenter syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro)
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042

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.