ClinVar Miner

List of variants studied for Leber congenital amaurosis 9 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_022787.4(NMNAT1):c.115+3A>G rs181504239
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) rs61740429
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) rs202057799
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=)

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.