List of variants reported as pathogenic for Leber optic atrophy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ATP6):m.8783G>A	rs1603221804
NC_012920.1(MT-ATP6):m.8851T>C	rs199476136
NC_012920.1(MT-ATP6):m.8969G>A	rs794726857
NC_012920.1(MT-ATP6):m.8993T>C	rs199476133
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-ATP6):m.9101T>C	rs199476134
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-CO1):m.7444G>A	rs199474822
NC_012920.1(MT-CO3):m.9205_9206del	rs199476137
NC_012920.1(MT-CO3):m.9237G>A	rs1057516064
NC_012920.1(MT-CO3):m.9438G>A	rs267606611
NC_012920.1(MT-CO3):m.9804G>A	rs200613617
NC_012920.1(MT-CYB):m.15150G>A	rs207460000
NC_012920.1(MT-CYB):m.15257G>A	rs41518645
NC_012920.1(MT-CYB):m.15579A>G	rs207460002
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.3635G>A	rs397515507
NC_012920.1(MT-ND1):m.3697G>A	rs199476122
NC_012920.1(MT-ND1):m.3733G>A	rs199476125
NC_012920.1(MT-ND1):m.3946G>A	rs199476123
NC_012920.1(MT-ND1):m.4136A>G	rs199476121
NC_012920.1(MT-ND1):m.4160T>C	rs199476119
NC_012920.1(MT-ND1):m.4171C>A	rs28616230
NC_012920.1(MT-ND1):m.4216T>C	rs1599988
NC_012920.1(MT-ND2):m.4640C>A	rs387906426
NC_012920.1(MT-ND2):m.5244G>A	rs199476115
NC_012920.1(MT-ND4):m.11777C>A	rs28384199
NC_012920.1(MT-ND4):m.11778G>A	rs199476112
NC_012920.1(MT-ND4L):m.10663T>C	rs1556423844
NC_012920.1(MT-ND5):m.12338T>C	rs201863060
NC_012920.1(MT-ND5):m.12425del	rs1603223730
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu)	rs267606893
NC_012920.1(MT-ND5):m.13042G>A	rs267606898
NC_012920.1(MT-ND5):m.13045A>C	rs267606895
NC_012920.1(MT-ND5):m.13051G>A	rs1131692063
NC_012920.1(MT-ND5):m.13063G>A	rs1603224017
NC_012920.1(MT-ND5):m.13094T>C	rs1603224029
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
NC_012920.1(MT-ND6):m.14487T>C	rs199476109
NC_012920.1(MT-ND6):m.14495A>G	rs199476106
NC_012920.1(MT-ND6):m.14568C>T	rs397515506
m.12848C>T	rs267606899

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