ClinVar Miner

List of variants studied for optic atrophy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)

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