List of variants reported as pathogenic for Mitochondrial disease by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-CYB):m.10406G>A	rs1603222826
NC_012920.1(MT-CYB):m.616T>C	rs387906420
NC_012920.1(MT-CYB):m.618T>C	rs1603218460
NC_012920.1(MT-TA):m.5591G>A	rs121434458
NC_012920.1(MT-TA):m.5631G>A	rs786200950
NC_012920.1(MT-TA):m.5650G>A	rs121434457
NC_012920.1(MT-TD):m.7566G>A	rs1603221016
NC_012920.1(MT-TE):m.14674T>C	rs387906421
NC_012920.1(MT-TE):m.14724G>A	rs1603224846
NC_012920.1(MT-TF):m.622G>A	rs118203887
NC_012920.1(MT-TH):m.12147G>A	rs121434474
NC_012920.1:m.12271T>C	rs1131692061
NC_012920.1:m.14692A>G	rs879192165
m.10438A>G	rs121434456
m.10450A>G	rs387906731
m.4269A>G	rs121434466

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