ClinVar Miner

List of variants reported as pathogenic for Leber optic atrophy by OMIM

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ATP6):m.9101T>C rs199476134
NC_012920.1(MT-CO1):m.7444G>A rs199474822
NC_012920.1(MT-CO3):m.9438G>A rs267606611
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-CYB):m.15812G>A rs200336777
NC_012920.1(MT-ND1):m.3394T>C rs41460449
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.4136A>G rs199476121
NC_012920.1(MT-ND1):m.4160T>C rs199476119
NC_012920.1(MT-ND1):m.4216T>C rs1599988
NC_012920.1(MT-ND2):m.4640C>A rs387906426
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12338T>C rs201863060
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14482C>A rs199476108
NC_012920.1(MT-ND6):m.14484T>C rs199476104
m.10663T>C rs1556423844
m.12848C>T rs267606899
m.14495A>G rs199476106
m.3733G>A rs199476125
m.4171C>A rs28616230
m.5244G>A rs199476115

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