ClinVar Miner

List of variants in gene NDUFV1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.*79C>T rs76839099
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-45T>G rs373940385
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.326+12G>A rs184136353
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589
NM_007103.4(NDUFV1):c.72+15G>T rs187400726
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386

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.