ClinVar Miner

List of variants in gene NDUFAF1 reported as uncertain significance 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: 18
Download table as spreadsheet
NM_016013.4(NDUFAF1):c.-137C>T rs369431865
NM_016013.4(NDUFAF1):c.-140C>T rs886051144
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-205G>C rs190265352
NM_016013.4(NDUFAF1):c.-293C>T rs760649120
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.-352C>T rs532681188
NM_016013.4(NDUFAF1):c.-379C>T rs146883891
NM_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620

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.