ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 21 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
NM_025152.3(NUBPL):c.423-1G>A rs863224123

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