List of variants reported as pathogenic for Leber hereditary optic neuropathy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 54

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HGVS	dbSNP	gnomAD frequency
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	rs61732167	0.00112
NC_012920.1(MT-ATP6):m.8783G>A	rs1603221804
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ND5):m.12425del	rs1603223730
NC_012920.1(MT-ND5):m.13063G>A	rs1603224017
NC_012920.1:m.11778G>A	rs199476112
NC_012920.1:m.13051G>A	rs1131692063
NC_012920.1:m.13094T>C	rs1603224029
NC_012920.1:m.14484T>C	rs199476104
NC_012920.1:m.3460G>A	rs199476118
NC_012920.1:m.7444G>A	rs199474822
NC_012920.1:m.8851T>C	rs199476136
NC_012920.1:m.8969G>A	rs794726857
NC_012920.1:m.8993T>C	rs199476133
NC_012920.1:m.8993T>G	rs199476133
NC_012920.1:m.9176T>C	rs199476135
NC_012920.1:m.9185T>C	rs199476138
NC_012920.1:m.9205_9206del	rs199476137
NC_012920.1:m.9237G>A	rs1057516064
m.10197G>A	rs267606891
m.10663T>C	rs1556423844
m.11696G>A	rs200873900
m.11777C>A	rs28384199
m.12338T>C	rs201863060
m.12706T>C	rs267606893
m.12848C>T	rs267606899
m.13042G>A	rs267606898
m.13045A>C	rs267606895
m.13708G>A	rs28359178
m.13730G>A	rs387906425
m.14459G>A	rs199476105
m.14482C>A	rs199476108
m.14487T>C	rs199476109
m.14495A>G	rs199476106
m.14568C>T	rs397515506
m.14596A>T	rs387906424
m.15150G>A	rs207460000
m.15257G>A	rs41518645
m.15579A>G	rs207460002
m.15812G>A	rs200336777
m.3394T>C	rs41460449
m.3635G>A	rs397515507
m.3697G>A	rs199476122
m.3733G>A	rs199476125
m.3946G>A	rs199476123
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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