List of variants in gene TOP3A studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004618.5(TOP3A):c.1282-21G>A	rs6502645	0.98602
NM_004618.5(TOP3A):c.391-10C>T	rs7207123	0.39970
NM_004618.5(TOP3A):c.2022-39C>A	rs6502644	0.31103
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=)	rs2230154	0.26761
NM_004618.5(TOP3A):c.916-49G>A	rs2294913	0.21931
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)	rs200944917	0.00006
NM_004618.5(TOP3A):c.298A>G (p.Met100Val)	rs376902371	0.00004
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)	rs372121045	0.00002
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr)	rs1214589149	0.00001
NM_004618.5(TOP3A):c.1468-11G>T	rs3817992
NM_004618.5(TOP3A):c.241-13T>G	rs1981719689
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs)	rs1597981046

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