ClinVar Miner

List of variants studied for NIK deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NM_003954.5(MAP3K14):c.1009C>T (p.Leu337=) rs374376396
NM_003954.5(MAP3K14):c.1033G>A (p.Val345Met)
NM_003954.5(MAP3K14):c.1091G>C (p.Gly364Ala) rs746805111
NM_003954.5(MAP3K14):c.1098A>G (p.Arg366=)
NM_003954.5(MAP3K14):c.1103G>A (p.Arg368Gln) rs200062238
NM_003954.5(MAP3K14):c.1131C>T (p.Asn377=) rs750776653
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926
NM_003954.5(MAP3K14):c.115G>A (p.Val39Ile) rs571893035
NM_003954.5(MAP3K14):c.1190T>C (p.Val397Ala)
NM_003954.5(MAP3K14):c.1252G>A (p.Glu418Lys)
NM_003954.5(MAP3K14):c.1290+5G>A rs781259100
NM_003954.5(MAP3K14):c.1293G>A (p.Val431=)
NM_003954.5(MAP3K14):c.132C>T (p.Ala44=) rs55740287
NM_003954.5(MAP3K14):c.133G>A (p.Val45Met)
NM_003954.5(MAP3K14):c.1420+4A>G rs1598246653
NM_003954.5(MAP3K14):c.1455C>T (p.Gly485=) rs549438131
NM_003954.5(MAP3K14):c.145C>G (p.Pro49Ala) rs1598257948
NM_003954.5(MAP3K14):c.1489G>A (p.Gly497Ser)
NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile) rs367938510
NM_003954.5(MAP3K14):c.155G>A (p.Cys52Tyr)
NM_003954.5(MAP3K14):c.1587C>T (p.His529=) rs562409633
NM_003954.5(MAP3K14):c.1615G>C (p.Val539Leu)
NM_003954.5(MAP3K14):c.1651C>G (p.Leu551Val) rs781104363
NM_003954.5(MAP3K14):c.1657G>A (p.Gly553Arg) rs1185307989
NM_003954.5(MAP3K14):c.168G>A (p.Glu56=) rs530385135
NM_003954.5(MAP3K14):c.1720G>A (p.Asp574Asn) rs996613711
NM_003954.5(MAP3K14):c.1794G>C (p.Gln598His) rs368589648
NM_003954.5(MAP3K14):c.1798T>C (p.Phe600Leu) rs753572716
NM_003954.5(MAP3K14):c.1816C>T (p.Leu606Phe)
NM_003954.5(MAP3K14):c.2020C>T (p.His674Tyr) rs11867907
NM_003954.5(MAP3K14):c.2027C>T (p.Pro676Leu)
NM_003954.5(MAP3K14):c.2054C>T (p.Thr685Ile)
NM_003954.5(MAP3K14):c.2084C>T (p.Pro695Leu)
NM_003954.5(MAP3K14):c.2096G>C (p.Gly699Ala) rs755169552
NM_003954.5(MAP3K14):c.2125_2126AG[3] (p.Ala710fs)
NM_003954.5(MAP3K14):c.2237C>T (p.Ser746Phe)
NM_003954.5(MAP3K14):c.2266C>T (p.Pro756Ser)
NM_003954.5(MAP3K14):c.2282G>A (p.Arg761Gln)
NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala) rs56302559
NM_003954.5(MAP3K14):c.2292C>T (p.Thr764=) rs746706058
NM_003954.5(MAP3K14):c.2312A>C (p.Gln771Pro) rs148416800
NM_003954.5(MAP3K14):c.2326+4C>T
NM_003954.5(MAP3K14):c.2405G>C (p.Ser802Thr) rs749266847
NM_003954.5(MAP3K14):c.2418G>A (p.Ser806=) rs190992383
NM_003954.5(MAP3K14):c.2433+3G>A rs549858466
NM_003954.5(MAP3K14):c.2434-10G>A rs34836788
NM_003954.5(MAP3K14):c.2485C>T (p.His829Tyr)
NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln) rs561757277
NM_003954.5(MAP3K14):c.2548C>T (p.Arg850Trp)
NM_003954.5(MAP3K14):c.2615A>G (p.His872Arg) rs200689947
NM_003954.5(MAP3K14):c.2668A>G (p.Ile890Val) rs374384797
NM_003954.5(MAP3K14):c.2679+5G>A rs780306004
NM_003954.5(MAP3K14):c.2728C>T (p.Arg910Cys)
NM_003954.5(MAP3K14):c.2729G>A (p.Arg910His)
NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr) rs1567984601
NM_003954.5(MAP3K14):c.2820T>C (p.His940=) rs751517422
NM_003954.5(MAP3K14):c.296G>A (p.Arg99His) rs762182665
NM_003954.5(MAP3K14):c.307G>A (p.Ala103Thr) rs369004173
NM_003954.5(MAP3K14):c.326+10G>A rs372339711
NM_003954.5(MAP3K14):c.392G>A (p.Arg131His)
NM_003954.5(MAP3K14):c.411G>C (p.Lys137Asn) rs922237736
NM_003954.5(MAP3K14):c.416G>A (p.Arg139His) rs533327337
NM_003954.5(MAP3K14):c.419G>A (p.Ser140Asn) rs11574819
NM_003954.5(MAP3K14):c.424G>T (p.Ala142Ser)
NM_003954.5(MAP3K14):c.437G>A (p.Arg146Gln)
NM_003954.5(MAP3K14):c.464C>T (p.Ala155Val)
NM_003954.5(MAP3K14):c.466C>T (p.His156Tyr)
NM_003954.5(MAP3K14):c.488A>G (p.Lys163Arg)
NM_003954.5(MAP3K14):c.521G>A (p.Cys174Tyr) rs184263319
NM_003954.5(MAP3K14):c.538-4G>C rs534556740
NM_003954.5(MAP3K14):c.555C>T (p.Leu185=) rs191629489
NM_003954.5(MAP3K14):c.559G>A (p.Ala187Thr) rs558318157
NM_003954.5(MAP3K14):c.643G>A (p.Glu215Lys) rs753550438
NM_003954.5(MAP3K14):c.64C>T (p.Leu22Phe)
NM_003954.5(MAP3K14):c.651A>G (p.Leu217=) rs766144092
NM_003954.5(MAP3K14):c.656C>T (p.Pro219Leu) rs1598255738
NM_003954.5(MAP3K14):c.667C>T (p.Arg223Ter)
NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln) rs767596622
NM_003954.5(MAP3K14):c.715G>A (p.Val239Met)
NM_003954.5(MAP3K14):c.727C>T (p.His243Tyr) rs201754001
NM_003954.5(MAP3K14):c.734C>G (p.Pro245Arg)
NM_003954.5(MAP3K14):c.742G>A (p.Gly248Arg)
NM_003954.5(MAP3K14):c.774C>G (p.Phe258Leu) rs148344770
NM_003954.5(MAP3K14):c.817C>G (p.Gln273Glu)
NM_003954.5(MAP3K14):c.820C>T (p.Pro274Ser) rs747466210
NM_003954.5(MAP3K14):c.823T>C (p.Trp275Arg) rs373635359
NM_003954.5(MAP3K14):c.844T>C (p.Ser282Pro)
NM_003954.5(MAP3K14):c.86C>T (p.Thr29Met)
NM_003954.5(MAP3K14):c.880A>C (p.Lys294Gln) rs113278485
NM_003954.5(MAP3K14):c.884C>T (p.Pro295Leu)
NM_003954.5(MAP3K14):c.889C>T (p.Pro297Ser)
NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg) rs766805198
NM_003954.5(MAP3K14):c.974G>A (p.Arg325His)
NM_003954.5(MAP3K14):c.989A>G (p.Lys330Arg)

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.