List of variants reported as likely benign for fatal multiple mitochondrial dysfunctions syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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: 121

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001010867.4(IBA57):c.264C>G (p.Ala88=)	rs13375853	0.01203
NM_001002755.4(NFU1):c.167-13T>G	rs181762580	0.00058
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)	rs202126055	0.00040
NM_001010867.4(IBA57):c.341+9G>A	rs370043210	0.00034
NM_001002755.4(NFU1):c.303-19A>G	rs141033711	0.00031
NM_001010867.4(IBA57):c.680-14T>G	rs375942905	0.00028
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)	rs142734560	0.00019
NM_001010867.4(IBA57):c.204C>T (p.Pro68=)	rs376235022	0.00017
NM_001002755.4(NFU1):c.62+10G>A	rs773351968	0.00016
NM_001002755.4(NFU1):c.545+11C>T	rs775731328	0.00015
NM_001002755.4(NFU1):c.545+9T>C	rs767405381	0.00015
NM_001010867.4(IBA57):c.801C>T (p.Ala267=)	rs138699407	0.00012
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=)	rs371687353	0.00010
NM_001010867.4(IBA57):c.680-5T>A	rs577050962	0.00008
NM_001010867.4(IBA57):c.150C>T (p.Cys50=)	rs765132163	0.00007
NM_001010867.4(IBA57):c.162C>T (p.Asp54=)	rs762720562	0.00006
NM_001010867.4(IBA57):c.342-14C>T	rs368178420	0.00006
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr)	rs200319163	0.00006
NM_001010867.4(IBA57):c.894G>A (p.Thr298=)	rs142711871	0.00005
NM_001002755.4(NFU1):c.546-16T>C	rs750424685	0.00004
NM_001010867.4(IBA57):c.114T>C (p.Pro38=)	rs1051788506	0.00004
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)	rs561482249	0.00003
NM_001010867.4(IBA57):c.837C>T (p.Leu279=)	rs756776278	0.00003
NM_001002755.4(NFU1):c.528G>A (p.Leu176=)	rs368931176	0.00002
NM_001010867.4(IBA57):c.138G>C (p.Ala46=)	rs1037373507	0.00002
NM_001002755.4(NFU1):c.300T>C (p.Ala100=)	rs201828730	0.00001
NM_001002755.4(NFU1):c.370-4A>G	rs1673014101	0.00001
NM_001002755.4(NFU1):c.545+7G>T	rs750179976	0.00001
NM_001002755.4(NFU1):c.699G>A (p.Pro233=)	rs200732109	0.00001
NM_001010867.4(IBA57):c.471G>A (p.Leu157=)	rs540662509	0.00001
NM_001010867.4(IBA57):c.639C>T (p.Leu213=)	rs751616087	0.00001
NM_001010867.4(IBA57):c.955C>T (p.Leu319=)	rs186655921	0.00001
NM_001002755.4(NFU1):c.189A>G (p.Thr63=)
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
NM_001002755.4(NFU1):c.294T>A (p.Pro98=)
NM_001002755.4(NFU1):c.303-18T>G
NM_001002755.4(NFU1):c.303-19A>T
NM_001002755.4(NFU1):c.303-4G>A
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
NM_001002755.4(NFU1):c.369+7A>T
NM_001002755.4(NFU1):c.370-4A>T	rs1673014101
NM_001002755.4(NFU1):c.370-7T>C
NM_001002755.4(NFU1):c.370-8G>A
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
NM_001002755.4(NFU1):c.484+7T>A
NM_001002755.4(NFU1):c.485-20T>A
NM_001002755.4(NFU1):c.485-8_485-5del	rs769116545
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
NM_001002755.4(NFU1):c.546-15del
NM_001002755.4(NFU1):c.546-16T>G	rs750424685
NM_001002755.4(NFU1):c.62+12G>A
NM_001002755.4(NFU1):c.62+14C>G	rs370979719
NM_001002755.4(NFU1):c.62+14C>T	rs370979719
NM_001002755.4(NFU1):c.62+17G>C
NM_001002755.4(NFU1):c.63-4G>A
NM_001002755.4(NFU1):c.69T>C (p.Cys23=)	rs2104814012
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
NM_001002755.4(NFU1):c.721-8G>C	rs1672329270
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
NM_001010867.4(IBA57):c.156G>A (p.Arg52=)	rs1571913232
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
NM_001010867.4(IBA57):c.159G>A (p.Leu53=)
NM_001010867.4(IBA57):c.172C>T (p.Leu58=)
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
NM_001010867.4(IBA57):c.255C>T (p.Ala85=)
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
NM_001010867.4(IBA57):c.285C>T (p.Gly95=)	rs1276192566
NM_001010867.4(IBA57):c.298C>T (p.Leu100=)	rs12132960
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
NM_001010867.4(IBA57):c.341+20G>A
NM_001010867.4(IBA57):c.342-14CT[2]
NM_001010867.4(IBA57):c.342-15C>T
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
NM_001010867.4(IBA57):c.420C>G (p.Leu140=)	rs555630458
NM_001010867.4(IBA57):c.420C>T (p.Leu140=)	rs555630458
NM_001010867.4(IBA57):c.435C>A (p.Ile145=)
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
NM_001010867.4(IBA57):c.567G>T (p.Pro189=)	rs764091126
NM_001010867.4(IBA57):c.576A>C (p.Ala192=)
NM_001010867.4(IBA57):c.585G>A (p.Gly195=)	rs2124976810
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
NM_001010867.4(IBA57):c.633C>T (p.Gly211=)
NM_001010867.4(IBA57):c.680-11A>G
NM_001010867.4(IBA57):c.680-16C>A
NM_001010867.4(IBA57):c.680-18C>G
NM_001010867.4(IBA57):c.680-6C>T
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
NM_001010867.4(IBA57):c.768C>T (p.Thr256=)	rs760717161
NM_001010867.4(IBA57):c.78C>T (p.Ala26=)
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
NM_001010867.4(IBA57):c.961C>T (p.Leu321=)	rs376206530
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
NM_001010867.4(IBA57):c.996C>T (p.His332=)

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.