ClinVar Miner

List of variants reported as pathogenic for Leber hereditary optic neuropathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.7444G>A rs199474822
NM_004550.4(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
m.10197G>A rs267606891
m.10237T>C rs1556423787
m.10663T>C rs1556423844
m.11253T>C rs200145866
m.11696G>A rs200873900
m.11777C>A rs28384199
m.12338T>C rs201863060
m.12811T>C rs199974018
m.12848C>T rs267606899
m.13042G>A rs267606898
m.13045A>C rs267606895
m.13637A>G rs200855215
m.13708G>A rs28359178
m.13730G>A rs387906425
m.14279G>A rs869025187
m.14325T>C rs397515505
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14498T>C rs869025186
m.14568C>T rs397515506
m.14596A>T rs387906424
m.14831G>A rs199795644
m.15257G>A rs41518645
m.15812G>A rs200336777
m.3376G>A rs397515612
m.3394T>C rs41460449
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4025C>T rs397515509
m.4136A>G rs199476121
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4216T>C rs1599988
m.4640C>A rs387906426
m.5244G>A rs199476115
m.9101T>C rs199476134
m.9438G>A rs267606611
m.9804G>A rs200613617

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