ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NC_012920.1(MT-ATP6):m.9032T>C rs1603221994
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ND2):m.5001dup rs1603219713
NC_012920.1:m.13514A>G rs587776440
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
m.10158T>C rs199476117
m.10191T>C rs267606890
m.10197G>A rs267606891
m.13513G>A rs267606897
m.14459G>A rs199476105
m.14487T>C rs199476109
m.15242G>A rs207459999
m.3946G>A rs199476123

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