ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 21 by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
NM_025152.3(NUBPL):c.514-19835C>A

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