ClinVar Miner

List of variants studied for Leber optic atrophy by GeneReviews

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ATP6):m.9101T>C rs199476134
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-CYB):m.14831G>A rs199795644
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.4025C>T rs397515509
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-ND3):m.10237T>C rs1556423787
NC_012920.1(MT-ND4):m.11253T>C rs200145866
NC_012920.1(MT-ND4):m.11696G>A rs200873900
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12811T>C rs199974018
NC_012920.1(MT-ND5):m.13637A>G rs200855215
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND6):m.14279G>A rs869025187
NC_012920.1(MT-ND6):m.14325T>C rs397515505
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
NC_012920.1(MT-ND6):m.14498T>C rs869025186
NC_012920.1(MT-ND6):m.14596A>T rs387906424
m.10663T>C rs1556423844
m.12848C>T rs267606899
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14568C>T rs397515506
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4171C>A rs28616230
m.5244G>A rs199476115

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