ClinVar Miner

List of variants studied for hereditary optic atrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) rs778455371 0.00002
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) rs2066653512
NM_001098.3(ACO2):c.75C>T (p.Val25=) rs1057518833

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