ClinVar Miner

List of variants in gene MAP3K14 reported as benign for NIK deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003954.5(MAP3K14):c.2706C>G (p.Val902=) rs1047833 0.74340
NM_003954.5(MAP3K14):c.327-7G>T rs17846855 0.03897
NM_003954.5(MAP3K14):c.1821+17A>C rs34171366 0.01290
NM_003954.5(MAP3K14):c.1821+13A>C rs11574830 0.01289
NM_003954.5(MAP3K14):c.419G>A (p.Ser140Asn) rs11574819 0.00749
NM_003954.5(MAP3K14):c.132C>T (p.Ala44=) rs55740287 0.00428
NM_003954.5(MAP3K14):c.774C>G (p.Phe258Leu) rs148344770 0.00353
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926 0.00295
NM_003954.5(MAP3K14):c.521G>A (p.Cys174Tyr) rs184263319 0.00125
NM_003954.5(MAP3K14):c.326+10G>A rs372339711 0.00079
NM_003954.5(MAP3K14):c.2679+17C>T rs201816353 0.00019
NM_003954.5(MAP3K14):c.538-5C>T rs374961674 0.00006
NM_003954.5(MAP3K14):c.656dup (p.Ala220fs) rs56405343

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.