List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 8a; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)	rs515726196	0.00003
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)	rs515726180	0.00002
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)	rs515726184	0.00001
NM_015713.5(RRM2B):c.455+1G>A	rs2132555188

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