ClinVar Miner

List of variants reported as benign for Microphthalmia, syndromic 12

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000965.5(RARB):c.306+19G>A rs77748152 0.04069
NM_000965.5(RARB):c.1155A>G (p.Ala385=) rs61733682 0.01990
NM_000965.5(RARB):c.920A>C (p.Asn307Thr) rs146757345 0.00053
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_000965.5(RARB):c.270G>A (p.Gly90=) rs116825683 0.00036
NM_000965.5(RARB):c.960C>A (p.Gly320=) rs775637491 0.00003
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr) rs368432868 0.00002
NM_000965.5(RARB):c.158-9C>G rs78470280
NM_000965.5(RARB):c.991+11T>C

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.