ClinVar Miner

List of variants studied for Leber optic atrophy by Mendelics

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Total variants: 30
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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.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CO3):m.9205_9206del rs199476137
NC_012920.1(MT-CYB):m.15150G>A rs207460000
NC_012920.1(MT-CYB):m.15579A>G rs207460002
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND1):m.4160T>C rs199476119
NC_012920.1(MT-ND4):m.11778G>A rs199476112
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.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-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-ND6):m.14487T>C rs199476109
NC_012920.1:m.9237G>A rs1057516064
m.10663T>C rs1556423844
m.14568C>T rs397515506
m.3635G>A rs397515507
m.3733G>A rs199476125
m.4171C>A rs28616230

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