ClinVar Miner

List of variants in gene combination AKT3, SDCCAG8 reported as likely benign for Bardet-Biedl syndrome 16

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 0.00029
NM_006642.5(SDCCAG8):c.1986-6C>T rs373079768 0.00004
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=) rs754838222 0.00001
NM_006642.5(SDCCAG8):c.2031G>A (p.Leu677=) rs201112344 0.00001
NM_006642.5(SDCCAG8):c.2055C>T (p.Asn685=) rs748909525 0.00001
NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=) rs952300030 0.00001
NM_006642.5(SDCCAG8):c.2085G>T (p.Ser695=) rs1239787306 0.00001
NM_006642.5(SDCCAG8):c.1986-17G>C rs760731605
NM_006642.5(SDCCAG8):c.1986-4C>T rs1665718706
NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=) rs751286389
NM_006642.5(SDCCAG8):c.2013G>A (p.Gln671=) rs1665723637
NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)
NM_006642.5(SDCCAG8):c.2034G>C (p.Val678=)
NM_006642.5(SDCCAG8):c.2061T>C (p.Leu687=) rs2148267101
NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)
NM_006642.5(SDCCAG8):c.2073G>A (p.Arg691=)
NM_006642.5(SDCCAG8):c.2085G>A (p.Ser695=)
NM_006642.5(SDCCAG8):c.2098C>A (p.Arg700=) rs369591883
NM_006642.5(SDCCAG8):c.2112+20G>A
NM_006642.5(SDCCAG8):c.2112+8G>A rs2148267459
NM_006642.5(SDCCAG8):c.2113-11_2113-8dup
NM_006642.5(SDCCAG8):c.2113-20C>T

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.