ClinVar Miner

List of variants reported as likely benign for perceptual disorders by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_144991.3(TSPEAR):c.44C>T (p.Ala15Val) rs150107590 0.00180
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_004447.6(EPS8):c.197G>A (p.Arg66His) rs77383735 0.00051
NM_198699.1(KRTAP10-12):c.248C>T (p.Ser83Leu) rs200497262 0.00024
NM_004568.6(SERPINB6):c.430+3G>A rs201080069 0.00021
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg) rs1329542100 0.00002
NM_005982.4(SIX1):c.561-13C>T rs1894946571 0.00001
NM_144991.3(TSPEAR):c.303+9641C>A rs374354141
NM_153700.2(STRC):c.3681+11G>A rs796781098

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.