ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) rs779150755 0.00004
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) rs138583785 0.00004
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007103.4(NDUFV1):c.312G>T (p.Lys104Asn) rs768399541 0.00002
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val) rs200270653 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg) rs776298670 0.00001
NM_007103.4(NDUFV1):c.349G>A (p.Ala117Thr) rs757486575 0.00001
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 0.00001
NM_007103.4(NDUFV1):c.1065C>G (p.Ile355Met)
NM_007103.4(NDUFV1):c.1080+1G>T
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter) rs1591111808
NM_007103.4(NDUFV1):c.1163G>A (p.Gly388Asp)
NM_007103.4(NDUFV1):c.118C>T (p.Arg40Trp)
NM_007103.4(NDUFV1):c.1213_1234del (p.Arg405fs)
NM_007103.4(NDUFV1):c.151_152del (p.Trp51fs) rs2134082911
NM_007103.4(NDUFV1):c.156-2A>G
NM_007103.4(NDUFV1):c.283A>G (p.Thr95Ala) rs147242476
NM_007103.4(NDUFV1):c.336T>G (p.Tyr112Ter) rs1591109810
NM_007103.4(NDUFV1):c.3G>A (p.Met1Ile)
NM_007103.4(NDUFV1):c.3G>T (p.Met1Ile)
NM_007103.4(NDUFV1):c.424del (p.Cys142fs)
NM_007103.4(NDUFV1):c.437dup (p.Arg147fs)
NM_007103.4(NDUFV1):c.450dup (p.Ala151fs)
NM_007103.4(NDUFV1):c.455G>A (p.Arg152His)
NM_007103.4(NDUFV1):c.475C>T (p.Arg159Ter)
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) rs773368756
NM_007103.4(NDUFV1):c.520C>T (p.Arg174Ter)
NM_007103.4(NDUFV1):c.611A>G (p.Tyr204Cys) rs1424452972
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007103.4(NDUFV1):c.797dup (p.Arg267fs) rs2134085151
NM_007103.4(NDUFV1):c.828del (p.Phe276fs)
NM_007103.4(NDUFV1):c.853C>A (p.Pro285Thr)
NM_007103.4(NDUFV1):c.961G>A (p.Gly321Ser)
NM_007103.4(NDUFV1):c.995_1000del (p.Cys332_Thr334delinsSer)

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.