List of variants reported as likely pathogenic by Wellcome Centre for Mitochondrial Research, Newcastle University

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu)	rs1598368033
NM_012062.5(DNM1L):c.1088G>A (p.Gly363Asp)	rs2137520923
NM_012062.5(DNM1L):c.1201G>A (p.Gly401Ser)	rs1316999302
NM_012062.5(DNM1L):c.2128A>G (p.Arg710Gly)	rs2137612346
NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup)	rs2137424964
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)	rs755933881
NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet)	rs1572079834
NM_020247.5(COQ8A):c.730+608_854-25del

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