List of variants studied for Progressive external ophthalmoplegia

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser)	rs387906891	0.00003
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser)	rs387906892	0.00001
NC_012920.1(MT-TI):m.4275G>A
NC_012920.1(MT-TS1):m.7486G>A	rs1556423295
NC_012920.1(MT-TY):m.5828G>A
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu)	rs515726194

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