ClinVar Miner

List of variants in gene SF3B4 reported as uncertain significance for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.707-8C>A rs371485646

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.