ClinVar Miner

List of variants reported as pathogenic for hereditary optic atrophy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852

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