ClinVar Miner

List of variants studied for hereditary optic atrophy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1870+1G>C

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