List of variants in gene SFXN4 reported as pathogenic for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_213649.2(SFXN4):c.414+1G>A	rs1380193482	0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)	rs1156283736	0.00001
NM_213649.2(SFXN4):c.233del (p.Pro78fs)	rs398124642
NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)	rs2133612740
NM_213649.2(SFXN4):c.471+1G>A	rs367932369
NM_213649.2(SFXN4):c.739dup (p.Arg247fs)	rs1554886159
NM_213649.2(SFXN4):c.930del (p.Ile310fs)	rs1589625048

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