ClinVar Miner

List of variants reported for Mitochondrial complex 1 deficiency, nuclear type 21 by Undiagnosed Diseases Network, NIH

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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
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003

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