ClinVar Miner

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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NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.8418T>C rs1057516062
NC_012920.1:m.9166T>C rs1057516063
NC_012920.1:m.9237G>A rs1057516064
NM_001131005.2(MEF2C):c.-143+4180_-143+4193del 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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