ClinVar Miner

List of variants studied for optic atrophy by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032730.5(RTN4IP1):c.806+1G>A rs772984484 0.00001
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His) rs2137523963
NM_032730.5(RTN4IP1):c.-328G>T
NM_032730.5(RTN4IP1):c.275-1299T>C
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)

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.