List of variants reported as pathogenic for cranial nerve neuropathy by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_012920.1:m.11778G>A	rs199476112
NC_012920.1:m.14484T>C	rs199476104
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)	rs1799747454
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	rs1560377736
NM_130837.3(OPA1):c.1935+1G>C	rs1711518217
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)	rs1488795500
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771

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