ClinVar Miner

List of variants studied for LADD syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_004465.1(FGF10):c.*5A>T rs111763965
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794

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.