List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)	rs267606682	0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)	rs137852956	0.00001
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro)	rs111033576
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	rs111033573
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)	rs111033579
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)	rs111033577
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	rs111033574
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro)	rs111033572
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu)	rs111033575
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)	rs80356543

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.