List of variants in gene NUBPL reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 21

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C	rs118161496	0.00343
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg)	rs200401432	0.00017
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)	rs201430951	0.00005
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)	rs397515440	0.00003
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile)	rs1273822033	0.00001
NM_025152.3(NUBPL):c.693+1G>A	rs751631278	0.00001
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu)	rs767543623	0.00001
NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe)	rs552722349
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer)	rs879255565

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