ClinVar Miner

List of variants in gene ATP5F1A reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004046.6(ATP5F1A):c.140-241C>T rs71355030 0.02418
NM_004046.6(ATP5F1A):c.483+35T>A rs41274314 0.01942
NM_004046.6(ATP5F1A):c.800-114C>T rs137860131 0.01472
NM_004046.6(ATP5F1A):c.1176+75A>G rs115889132 0.00740
NM_004046.6(ATP5F1A):c.1176+81A>G rs116569703 0.00739
NM_004046.6(ATP5F1A):c.*75G>T rs15042 0.00738
NM_004046.6(ATP5F1A):c.1429+287T>G rs182325314 0.00639
NM_004046.6(ATP5F1A):c.1580+23C>A rs73953979 0.00509
NM_004046.6(ATP5F1A):c.1429+19C>A rs117126269 0.00423
NM_004046.6(ATP5F1A):c.1177-168C>T rs140247016 0.00419
NM_004046.6(ATP5F1A):c.1177-23G>A rs79757869 0.00326
NM_004046.6(ATP5F1A):c.1284+44T>C rs202177720 0.00325
NM_004046.6(ATP5F1A):c.1581-23G>A rs78648982 0.00236
NM_004046.6(ATP5F1A):c.483+15C>T rs202110837 0.00104
NM_004046.6(ATP5F1A):c.276A>G (p.Ala92=) rs151074230 0.00072
NM_004046.6(ATP5F1A):c.1581-20C>T rs188588885 0.00046
NM_004046.6(ATP5F1A):c.1177-32C>T rs185330731 0.00028
NM_004046.6(ATP5F1A):c.1177-20C>T rs369105133 0.00026
NM_004046.6(ATP5F1A):c.267T>C (p.Asn89=) rs182134517 0.00024
NM_004046.6(ATP5F1A):c.828G>A (p.Ser276=) rs758599519 0.00013
NM_004046.6(ATP5F1A):c.1257C>A (p.Ser419=) rs750265360 0.00010
NM_004046.6(ATP5F1A):c.228T>C (p.Ser76=) rs187219829 0.00010
NM_004046.6(ATP5F1A):c.834G>A (p.Thr278=) rs763102405 0.00009
NM_004046.6(ATP5F1A):c.114C>T (p.Ala38=) rs138315345 0.00004
NM_004046.6(ATP5F1A):c.1567T>C (p.Leu523=) rs748813517 0.00002
NM_004046.6(ATP5F1A):c.310-15G>A rs1167058014 0.00002
NM_004046.6(ATP5F1A):c.1176+5T>G rs760107868 0.00001
NM_004046.6(ATP5F1A):c.1177-134G>A rs74904652
NM_004046.6(ATP5F1A):c.1257C>T (p.Ser419=) rs750265360
NM_004046.6(ATP5F1A):c.310-97_310-90dup rs71264822
NM_004046.6(ATP5F1A):c.990A>G (p.Arg330=) rs1555694909

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.