List of variants in gene NDUFA6 reported as pathogenic for Mitochondrial disease

Minimum submission review status:		Collection method:
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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_002490.6(NDUFA6):c.3G>A (p.Met1Ile)	rs1023075742	0.00002
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro)	rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter)	rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs)	rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs)	rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs)	rs781099275

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