List of variants in gene NDUFAF6 reported as likely pathogenic for Mitochondrial complex 1 deficiency, nuclear type 17

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00004
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	rs201732170	0.00003
NM_152416.4(NDUFAF6):c.420+784C>T	rs749738738	0.00002
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	rs753873681	0.00001
NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs)	rs863223932
NM_152416.4(NDUFAF6):c.420+1_420+2dup	rs1829405389

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