ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial diseases

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Total variants: 9
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HGVS dbSNP
NC_012920.1(MT-CYB):m.4327T>C rs1603219411
NC_012920.1(MT-CYB):m.5672T>C rs1603220085
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.12372G>A rs2853499
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
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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