List of variants studied for hereditary optic atrophy by Genomics England Pilot Project, Genomics England

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ATP6):m.8851T>C	rs199476136
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-ATP6):m.9176T>C	rs199476135
NC_012920.1(MT-ATP6):m.9176T>G	rs199476135
NC_012920.1(MT-ATP6):m.9185T>C	rs199476138
NC_012920.1(MT-ND1):m.3460G>A	rs199476118
NC_012920.1(MT-ND1):m.3946G>A	rs199476123
NC_012920.1(MT-ND4):m.11778G>A	rs199476112
NC_012920.1(MT-ND6):m.14459G>A	rs199476105
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)	rs2109058985
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)	rs1724946838
NM_130837.3(OPA1):c.610+360G>A	rs1553872542
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771

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