ClinVar Miner

List of variants in gene TTC8 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_144596.4(TTC8):c.*83A>G rs147325843
NM_144596.4(TTC8):c.*93G>A
NM_144596.4(TTC8):c.-25G>A rs7145692
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748
NM_144596.4(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) rs199649536
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889
NM_144596.4(TTC8):c.299A>G (p.Asn100Ser) rs139392523
NM_144596.4(TTC8):c.357T>C (p.Ile119=) rs567203939
NM_144596.4(TTC8):c.528T>C (p.Asn176=) rs1555391010
NM_198309.3(TTC8):c.595-5C>T rs137853922

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.