ClinVar Miner

List of variants studied for Leber hereditary optic neuropathy, autosomal recessive by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser) rs965912564 0.00001

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