ClinVar Miner

List of variants reported as likely pathogenic for Leber plus disease

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) rs1555830705

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