ClinVar Miner

List of variants in gene ATPAF2 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
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
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_145691.4(ATPAF2):c.*132C>T rs765325833 0.00102
NM_145691.4(ATPAF2):c.*485G>A rs147889525 0.00056
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_145691.4(ATPAF2):c.*138G>A rs760080344 0.00028
NM_145691.4(ATPAF2):c.*526C>T rs780010191 0.00024
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) rs141020107 0.00021
NM_145691.4(ATPAF2):c.*250C>T rs141638018 0.00016
NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr) rs368477064 0.00010
NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) rs1052960618 0.00006
NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) rs373144265 0.00005
NM_145691.4(ATPAF2):c.713G>A (p.Arg238His) rs770015610 0.00002
NM_145691.4(ATPAF2):c.*54C>T rs547389437 0.00001
NM_145691.4(ATPAF2):c.-1G>T rs886052665 0.00001
NM_145691.4(ATPAF2):c.422+11T>C rs776986750 0.00001
NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro) rs746446116 0.00001
NM_145691.4(ATPAF2):c.*108C>T rs551939105
NM_145691.4(ATPAF2):c.*137C>T rs1346345212
NM_145691.4(ATPAF2):c.*194C>A rs143710995
NM_145691.4(ATPAF2):c.*26G>C rs2044417447
NM_145691.4(ATPAF2):c.*337T>C rs886052664
NM_145691.4(ATPAF2):c.*378A>T rs530700735
NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) rs104894554
NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) rs759676953
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298
NM_145691.4(ATPAF2):c.480A>C (p.Pro160=) rs2044519018
NM_145691.4(ATPAF2):c.511G>T (p.Val171Leu)
NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) rs141827488
NM_145691.4(ATPAF2):c.700G>A (p.Val234Met)
NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys) rs1131691631

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.