List of variants in gene ATPAF2 reported as benign for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_145691.4(ATPAF2):c.*165C>T	rs34673242	0.06601
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	rs33997182	0.02668
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	rs62073570	0.00522
NM_145691.4(ATPAF2):c.*20C>G	rs1128069	0.00519
NM_145691.4(ATPAF2):c.*456T>C	rs77980072	0.00488
NM_145691.4(ATPAF2):c.*130T>C	rs117739515	0.00300
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)	rs34607655	0.00291
NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu)	rs149036879	0.00167

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