ClinVar Miner

List of variants in gene B9D2 studied for Joubert syndrome 1

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.238G>A (p.Val80Met)
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317
NM_030578.4(B9D2):c.88+6C>T rs112498529

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.