ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation defect type 17 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12920159)_(12920458_?)del
NM_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)

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.