ClinVar Miner

List of variants in gene SLC25A4 reported as uncertain significance for Sengers syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val) rs1560841935
NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)

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.