ClinVar Miner

List of variants in gene NDUFS4 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.-22C>A rs144843461
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) rs1425486695

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.