ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) rs1555830705

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