List of variants reported as likely pathogenic by Center for Neuroscience and Cell Biology, University of Coimbra, Portugal

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_012920.1(MT-ATP6):m.9166T>C	rs1057516063
NC_012920.1(MT-ATP8):m.8418T>C	rs1057516062
NC_012920.1(MT-CO3):m.9237G>A	rs1057516064
NC_012920.1(MT-CYB):m.15060G>A	rs1057516072
NC_012920.1(MT-CYB):m.15246G>A	rs1057516075
NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC	rs1085307051
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	rs863224229
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)	rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp)	rs1555830705

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