ClinVar Miner

List of variants in gene SDCCAG8 reported as likely pathogenic for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006642.5(SDCCAG8):c.1985+1G>T rs752046196 0.00003
NM_006642.5(SDCCAG8):c.220+2T>C rs757796329 0.00003
NM_006642.5(SDCCAG8):c.1745-2A>G rs1442457872 0.00002
NM_006642.5(SDCCAG8):c.307-1G>A rs1460888769 0.00001
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665 0.00001
NM_006642.5(SDCCAG8):c.675+1G>A rs1022080658 0.00001
NM_006642.5(SDCCAG8):c.1068+1G>A
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1617-1G>A
NM_006642.5(SDCCAG8):c.1853+2T>A
NM_006642.5(SDCCAG8):c.221-1G>A rs2068036602
NM_006642.5(SDCCAG8):c.420+1G>C
NM_006642.5(SDCCAG8):c.547-1G>A rs2070433656

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.