ClinVar Miner

List of variants reported as uncertain significance for NIK deficiency by Invitae

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Total variants: 70
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HGVS dbSNP
NM_003954.5(MAP3K14):c.1033G>A (p.Val345Met) rs0
NM_003954.5(MAP3K14):c.1091G>C (p.Gly364Ala) rs746805111
NM_003954.5(MAP3K14):c.1098A>G (p.Arg366=) rs0
NM_003954.5(MAP3K14):c.115G>A (p.Val39Ile) rs571893035
NM_003954.5(MAP3K14):c.1190T>C (p.Val397Ala) rs0
NM_003954.5(MAP3K14):c.1252G>A (p.Glu418Lys) rs0
NM_003954.5(MAP3K14):c.1290+5G>A rs781259100
NM_003954.5(MAP3K14):c.1293G>A (p.Val431=) rs0
NM_003954.5(MAP3K14):c.133G>A (p.Val45Met) rs0
NM_003954.5(MAP3K14):c.1420+4A>G rs1598246653
NM_003954.5(MAP3K14):c.145C>G (p.Pro49Ala) rs1598257948
NM_003954.5(MAP3K14):c.1489G>A (p.Gly497Ser) rs0
NM_003954.5(MAP3K14):c.155G>A (p.Cys52Tyr) rs0
NM_003954.5(MAP3K14):c.1615G>C (p.Val539Leu) rs0
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.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) rs0
NM_003954.5(MAP3K14):c.2027C>T (p.Pro676Leu) rs0
NM_003954.5(MAP3K14):c.2054C>T (p.Thr685Ile) rs0
NM_003954.5(MAP3K14):c.2084C>T (p.Pro695Leu) rs0
NM_003954.5(MAP3K14):c.2096G>C (p.Gly699Ala) rs755169552
NM_003954.5(MAP3K14):c.2125_2126AG[3] (p.Ala710fs) rs0
NM_003954.5(MAP3K14):c.2237C>T (p.Ser746Phe) rs0
NM_003954.5(MAP3K14):c.2266C>T (p.Pro756Ser) rs0
NM_003954.5(MAP3K14):c.2282G>A (p.Arg761Gln) rs0
NM_003954.5(MAP3K14):c.2312A>C (p.Gln771Pro) rs148416800
NM_003954.5(MAP3K14):c.2326+4C>T rs0
NM_003954.5(MAP3K14):c.2405G>C (p.Ser802Thr) rs749266847
NM_003954.5(MAP3K14):c.2433+3G>A rs549858466
NM_003954.5(MAP3K14):c.2485C>T (p.His829Tyr) rs0
NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln) rs561757277
NM_003954.5(MAP3K14):c.2548C>T (p.Arg850Trp) rs0
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) rs0
NM_003954.5(MAP3K14):c.2729G>A (p.Arg910His) rs0
NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr) rs1567984601
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.392G>A (p.Arg131His) rs0
NM_003954.5(MAP3K14):c.411G>C (p.Lys137Asn) rs922237736
NM_003954.5(MAP3K14):c.424G>T (p.Ala142Ser) rs0
NM_003954.5(MAP3K14):c.437G>A (p.Arg146Gln) rs0
NM_003954.5(MAP3K14):c.464C>T (p.Ala155Val) rs0
NM_003954.5(MAP3K14):c.466C>T (p.His156Tyr) rs0
NM_003954.5(MAP3K14):c.488A>G (p.Lys163Arg) rs0
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) rs0
NM_003954.5(MAP3K14):c.656C>T (p.Pro219Leu) rs1598255738
NM_003954.5(MAP3K14):c.667C>T (p.Arg223Ter) rs0
NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln) rs767596622
NM_003954.5(MAP3K14):c.715G>A (p.Val239Met) rs0
NM_003954.5(MAP3K14):c.727C>T (p.His243Tyr) rs201754001
NM_003954.5(MAP3K14):c.734C>G (p.Pro245Arg) rs0
NM_003954.5(MAP3K14):c.742G>A (p.Gly248Arg) rs0
NM_003954.5(MAP3K14):c.817C>G (p.Gln273Glu) rs0
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) rs0
NM_003954.5(MAP3K14):c.86C>T (p.Thr29Met) rs0
NM_003954.5(MAP3K14):c.884C>T (p.Pro295Leu) rs0
NM_003954.5(MAP3K14):c.889C>T (p.Pro297Ser) rs0
NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg) rs766805198
NM_003954.5(MAP3K14):c.974G>A (p.Arg325His) rs0
NM_003954.5(MAP3K14):c.989A>G (p.Lys330Arg) rs0

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