List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by 3billion

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005932.4(MIPEP):c.590T>C (p.Leu197Pro)	rs150167906	0.00080
NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp)	rs761350541	0.00006
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys)	rs201848368	0.00003
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)	rs756662327	0.00002
NM_020442.6(VARS2):c.503G>A (p.Arg168His)	rs776585917	0.00001
NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)
NM_014672.4(PRORP):c.1505G>A (p.Arg502Gln)
NM_017646.6(TRIT1):c.415-4A>G	rs1642667473
NM_018127.7(ELAC2):c.352G>T (p.Val118Phe)	rs1906915211
NM_018292.5(QRSL1):c.677C>T (p.Ser226Leu)
NM_020442.6(VARS2):c.1166-15G>T	rs2150559040
NM_021100.5(NFS1):c.823C>T (p.Arg275Cys)
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
NM_032380.5(GFM2):c.1615C>A (p.His539Asn)

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.