ClinVar Miner

List of variants reported as uncertain significance for NIK deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_003954.5(MAP3K14):c.2326+4C>T rs56907763 0.00056
NM_003954.5(MAP3K14):c.823T>C (p.Trp275Arg) rs373635359 0.00051
NM_003954.5(MAP3K14):c.424G>T (p.Ala142Ser) rs374256640 0.00021
NM_003954.5(MAP3K14):c.1489G>A (p.Gly497Ser) rs201948973 0.00019
NM_003954.5(MAP3K14):c.2615A>G (p.His872Arg) rs200689947 0.00019
NM_003954.5(MAP3K14):c.155G>A (p.Cys52Tyr) rs200601398 0.00016
NM_003954.5(MAP3K14):c.392G>A (p.Arg131His) rs368399230 0.00016
NM_003954.5(MAP3K14):c.2237C>T (p.Ser746Phe) rs571831529 0.00015
NM_003954.5(MAP3K14):c.1630G>A (p.Asp544Asn) rs191157690 0.00009
NM_003954.5(MAP3K14):c.2783C>A (p.Pro928His) rs56036201 0.00009
NM_003954.5(MAP3K14):c.1152+15G>A rs760438783 0.00008
NM_003954.5(MAP3K14):c.2668A>G (p.Ile890Val) rs374384797 0.00008
NM_003954.5(MAP3K14):c.1190T>C (p.Val397Ala) rs371103552 0.00007
NM_003954.5(MAP3K14):c.296G>A (p.Arg99His) rs762182665 0.00007
NM_003954.5(MAP3K14):c.307G>A (p.Ala103Thr) rs369004173 0.00006
NM_003954.5(MAP3K14):c.559G>A (p.Ala187Thr) rs558318157 0.00006
NM_003954.5(MAP3K14):c.653G>A (p.Arg218Gln) rs199558586 0.00006
NM_003954.5(MAP3K14):c.715G>A (p.Val239Met) rs372261116 0.00006
NM_003954.5(MAP3K14):c.727C>T (p.His243Tyr) rs201754001 0.00006
NM_003954.5(MAP3K14):c.934C>A (p.Pro312Thr) rs201022790 0.00006
NM_003954.5(MAP3K14):c.2116A>G (p.Thr706Ala) rs149303541 0.00005
NM_003954.5(MAP3K14):c.133G>A (p.Val45Met) rs373437304 0.00004
NM_003954.5(MAP3K14):c.1723G>A (p.Ala575Thr) rs553580666 0.00004
NM_003954.5(MAP3K14):c.2282G>A (p.Arg761Gln) rs371521847 0.00004
NM_003954.5(MAP3K14):c.2326+5G>A rs1257808280 0.00004
NM_003954.5(MAP3K14):c.2433+3G>A rs549858466 0.00004
NM_003954.5(MAP3K14):c.2530A>G (p.Met844Val) rs771108600 0.00004
NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln) rs561757277 0.00004
NM_003954.5(MAP3K14):c.989A>G (p.Lys330Arg) rs376247949 0.00004
NM_003954.5(MAP3K14):c.1244A>G (p.His415Arg) rs774469329 0.00003
NM_003954.5(MAP3K14):c.1290+5G>A rs781259100 0.00003
NM_003954.5(MAP3K14):c.214G>A (p.Glu72Lys) rs757101873 0.00003
NM_003954.5(MAP3K14):c.2293G>A (p.Val765Ile) rs777448729 0.00003
NM_003954.5(MAP3K14):c.1082C>T (p.Ala361Val) rs776212544 0.00002
NM_003954.5(MAP3K14):c.1205A>G (p.His402Arg) rs753326951 0.00002
NM_003954.5(MAP3K14):c.1798T>C (p.Phe600Leu) rs753572716 0.00002
NM_003954.5(MAP3K14):c.2027C>T (p.Pro676Leu) rs759696785 0.00002
NM_003954.5(MAP3K14):c.2281C>T (p.Arg761Trp) rs774779223 0.00002
NM_003954.5(MAP3K14):c.2405G>C (p.Ser802Thr) rs749266847 0.00002
NM_003954.5(MAP3K14):c.2557G>A (p.Asp853Asn) rs766785713 0.00002
NM_003954.5(MAP3K14):c.2728C>T (p.Arg910Cys) rs767382383 0.00002
NM_003954.5(MAP3K14):c.437G>A (p.Arg146Gln) rs1171827253 0.00002
NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln) rs767596622 0.00002
NM_003954.5(MAP3K14):c.719G>T (p.Trp240Leu) rs781742842 0.00002
NM_003954.5(MAP3K14):c.889C>T (p.Pro297Ser) rs765494654 0.00002
NM_003954.5(MAP3K14):c.106C>G (p.Gln36Glu) rs751516263 0.00001
NM_003954.5(MAP3K14):c.1094C>T (p.Ser365Phe) rs370433846 0.00001
NM_003954.5(MAP3K14):c.115G>A (p.Val39Ile) rs571893035 0.00001
NM_003954.5(MAP3K14):c.1214G>A (p.Arg405His) rs376157616 0.00001
NM_003954.5(MAP3K14):c.1651C>G (p.Leu551Val) rs781104363 0.00001
NM_003954.5(MAP3K14):c.1715G>C (p.Ser572Thr) rs1404009964 0.00001
NM_003954.5(MAP3K14):c.1794G>C (p.Gln598His) rs368589648 0.00001
NM_003954.5(MAP3K14):c.1867G>A (p.Ala623Thr) rs778411284 0.00001
NM_003954.5(MAP3K14):c.2039C>T (p.Ala680Val) rs375783480 0.00001
NM_003954.5(MAP3K14):c.2042A>G (p.Asn681Ser) rs771322208 0.00001
NM_003954.5(MAP3K14):c.2096G>C (p.Gly699Ala) rs755169552 0.00001
NM_003954.5(MAP3K14):c.2144C>G (p.Pro715Arg) rs1246398259 0.00001
NM_003954.5(MAP3K14):c.2180C>T (p.Ser727Phe) rs745358592 0.00001
NM_003954.5(MAP3K14):c.2206G>C (p.Glu736Gln) rs2044100625 0.00001
NM_003954.5(MAP3K14):c.2249C>G (p.Pro750Arg) rs1379745083 0.00001
NM_003954.5(MAP3K14):c.2266C>T (p.Pro756Ser) rs773403567 0.00001
NM_003954.5(MAP3K14):c.2446G>T (p.Ala816Ser) rs1448883564 0.00001
NM_003954.5(MAP3K14):c.2485C>T (p.His829Tyr) rs369646866 0.00001
NM_003954.5(MAP3K14):c.2679+5G>A rs780306004 0.00001
NM_003954.5(MAP3K14):c.2729G>A (p.Arg910His) rs367798756 0.00001
NM_003954.5(MAP3K14):c.2797G>A (p.Ala933Thr) rs375320125 0.00001
NM_003954.5(MAP3K14):c.310G>A (p.Gly104Arg) rs1303193256 0.00001
NM_003954.5(MAP3K14):c.610G>A (p.Gly204Ser) rs2044271407 0.00001
NM_003954.5(MAP3K14):c.643G>A (p.Glu215Lys) rs753550438 0.00001
NM_003954.5(MAP3K14):c.717G>A (p.Val239=) rs746370078 0.00001
NM_003954.5(MAP3K14):c.734C>G (p.Pro245Arg) rs778754357 0.00001
NM_003954.5(MAP3K14):c.817C>G (p.Gln273Glu) rs368122915 0.00001
NM_003954.5(MAP3K14):c.86C>T (p.Thr29Met) rs55820104 0.00001
NM_003954.5(MAP3K14):c.884C>G (p.Pro295Arg) rs1055681030 0.00001
NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg) rs766805198 0.00001
NM_003954.5(MAP3K14):c.974G>A (p.Arg325His) rs754044184 0.00001
NM_003954.5(MAP3K14):c.1000G>A (p.Glu334Lys)
NM_003954.5(MAP3K14):c.1001A>C (p.Glu334Ala) rs1598255366
NM_003954.5(MAP3K14):c.1019C>T (p.Ala340Val) rs2143819783
NM_003954.5(MAP3K14):c.1033G>A (p.Val345Met) rs1444431082
NM_003954.5(MAP3K14):c.1048G>C (p.Ala350Pro)
NM_003954.5(MAP3K14):c.1091G>C (p.Gly364Ala) rs746805111
NM_003954.5(MAP3K14):c.1102C>T (p.Arg368Trp)
NM_003954.5(MAP3K14):c.1147A>G (p.Thr383Ala) rs2143819386
NM_003954.5(MAP3K14):c.1152+4A>G
NM_003954.5(MAP3K14):c.1225G>T (p.Gly409Cys) rs2044251713
NM_003954.5(MAP3K14):c.1243C>T (p.His415Tyr) rs2044251581
NM_003954.5(MAP3K14):c.1250T>A (p.Met417Lys)
NM_003954.5(MAP3K14):c.1252G>A (p.Glu418Lys) rs749187758
NM_003954.5(MAP3K14):c.1290+4C>T
NM_003954.5(MAP3K14):c.1324_1413dup (p.Met442_Leu471dup) rs2143792066
NM_003954.5(MAP3K14):c.1337G>A (p.Gly446Glu)
NM_003954.5(MAP3K14):c.1360C>G (p.Pro454Ala) rs2143792169
NM_003954.5(MAP3K14):c.1420+4A>G rs1598246653
NM_003954.5(MAP3K14):c.145C>G (p.Pro49Ala) rs1598257948
NM_003954.5(MAP3K14):c.1552+4A>G rs2143791049
NM_003954.5(MAP3K14):c.1573A>C (p.Ser525Arg)
NM_003954.5(MAP3K14):c.1602C>T (p.Asp534=)
NM_003954.5(MAP3K14):c.1615G>C (p.Val539Leu) rs2044155998
NM_003954.5(MAP3K14):c.1655C>A (p.Thr552Lys) rs757322900
NM_003954.5(MAP3K14):c.1657+3_1657+168del rs2143789015
NM_003954.5(MAP3K14):c.1657+5G>C rs2143789397
NM_003954.5(MAP3K14):c.1657G>A (p.Gly553Arg) rs1185307989
NM_003954.5(MAP3K14):c.1708G>T (p.Gly570Cys)
NM_003954.5(MAP3K14):c.1720G>A (p.Asp574Asn) rs996613711
NM_003954.5(MAP3K14):c.1735G>A (p.Val579Ile)
NM_003954.5(MAP3K14):c.1777T>C (p.Cys593Arg)
NM_003954.5(MAP3K14):c.1797C>A (p.Phe599Leu)
NM_003954.5(MAP3K14):c.1802G>A (p.Arg601Gln)
NM_003954.5(MAP3K14):c.1816C>T (p.Leu606Phe) rs2044139251
NM_003954.5(MAP3K14):c.1818C>T (p.Leu606=)
NM_003954.5(MAP3K14):c.1821+3C>G
NM_003954.5(MAP3K14):c.1821G>A (p.Lys607=)
NM_003954.5(MAP3K14):c.1833G>T (p.Glu611Asp) rs2143782753
NM_003954.5(MAP3K14):c.1858C>T (p.Pro620Ser)
NM_003954.5(MAP3K14):c.188C>A (p.Thr63Asn)
NM_003954.5(MAP3K14):c.1901T>G (p.Leu634Arg) rs2143782567
NM_003954.5(MAP3K14):c.1924G>A (p.Val642Met) rs1428155711
NM_003954.5(MAP3K14):c.1928C>G (p.Ser643Cys)
NM_003954.5(MAP3K14):c.1931C>T (p.Ala644Val) rs2044133793
NM_003954.5(MAP3K14):c.1939C>G (p.Leu647Val) rs2044133680
NM_003954.5(MAP3K14):c.193G>A (p.Gly65Ser) rs2143830361
NM_003954.5(MAP3K14):c.1958G>A (p.Arg653Gln)
NM_003954.5(MAP3K14):c.1973-3T>C rs2044106407
NM_003954.5(MAP3K14):c.200C>A (p.Ala67Asp)
NM_003954.5(MAP3K14):c.2033A>G (p.Asn678Ser)
NM_003954.5(MAP3K14):c.2054C>T (p.Thr685Ile) rs892790739
NM_003954.5(MAP3K14):c.2081C>T (p.Ser694Leu)
NM_003954.5(MAP3K14):c.2084C>T (p.Pro695Leu) rs2044103255
NM_003954.5(MAP3K14):c.2127_2128dup (p.Ala710fs) rs2044102461
NM_003954.5(MAP3K14):c.2131C>T (p.Pro711Ser)
NM_003954.5(MAP3K14):c.2144C>A (p.Pro715His) rs1246398259
NM_003954.5(MAP3K14):c.2155C>T (p.Pro719Ser) rs2143771869
NM_003954.5(MAP3K14):c.2158G>T (p.Glu720Ter) rs2143771835
NM_003954.5(MAP3K14):c.215A>C (p.Glu72Ala)
NM_003954.5(MAP3K14):c.2167G>A (p.Glu723Lys) rs2143771785
NM_003954.5(MAP3K14):c.2176A>C (p.Lys726Gln) rs2044101350
NM_003954.5(MAP3K14):c.2183C>T (p.Pro728Leu)
NM_003954.5(MAP3K14):c.2288C>G (p.Ala763Gly)
NM_003954.5(MAP3K14):c.2301G>T (p.Glu767Asp)
NM_003954.5(MAP3K14):c.2312A>C (p.Gln771Pro) rs148416800
NM_003954.5(MAP3K14):c.2326+20C>T
NM_003954.5(MAP3K14):c.2387C>T (p.Ser796Leu)
NM_003954.5(MAP3K14):c.2433+16C>T
NM_003954.5(MAP3K14):c.2437C>A (p.Pro813Thr)
NM_003954.5(MAP3K14):c.2470C>G (p.Leu824Val) rs2143767158
NM_003954.5(MAP3K14):c.2482G>A (p.Val828Ile)
NM_003954.5(MAP3K14):c.2529C>T (p.Asn843=)
NM_003954.5(MAP3K14):c.2547dup (p.Arg850fs)
NM_003954.5(MAP3K14):c.2548C>T (p.Arg850Trp) rs2044085083
NM_003954.5(MAP3K14):c.2549G>A (p.Arg850Gln)
NM_003954.5(MAP3K14):c.257-2A>G rs2143827729
NM_003954.5(MAP3K14):c.2576A>G (p.Asn859Ser)
NM_003954.5(MAP3K14):c.2593A>G (p.Ile865Val) rs2044067441
NM_003954.5(MAP3K14):c.2627G>A (p.Arg876Gln)
NM_003954.5(MAP3K14):c.2639G>A (p.Arg880Gln) rs772349799
NM_003954.5(MAP3K14):c.2679+6G>T
NM_003954.5(MAP3K14):c.2690C>G (p.Ala897Gly)
NM_003954.5(MAP3K14):c.2722C>T (p.Pro908Ser)
NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr) rs1567984601
NM_003954.5(MAP3K14):c.2823C>T (p.Gly941=)
NM_003954.5(MAP3K14):c.28G>C (p.Gly10Arg) rs2143830849
NM_003954.5(MAP3K14):c.295C>T (p.Arg99Cys)
NM_003954.5(MAP3K14):c.320A>G (p.Gln107Arg)
NM_003954.5(MAP3K14):c.333del (p.Glu112fs) rs2143822268
NM_003954.5(MAP3K14):c.334G>A (p.Glu112Lys)
NM_003954.5(MAP3K14):c.34C>T (p.Pro12Ser)
NM_003954.5(MAP3K14):c.381C>T (p.Gly127=) rs2044275539
NM_003954.5(MAP3K14):c.383A>G (p.Lys128Arg) rs2044275499
NM_003954.5(MAP3K14):c.411G>C (p.Lys137Asn) rs922237736
NM_003954.5(MAP3K14):c.41C>T (p.Ser14Leu)
NM_003954.5(MAP3K14):c.420C>G (p.Ser140Arg) rs775636720
NM_003954.5(MAP3K14):c.428G>A (p.Arg143Gln)
NM_003954.5(MAP3K14):c.436C>A (p.Arg146=)
NM_003954.5(MAP3K14):c.440AGA[2] (p.Lys149del)
NM_003954.5(MAP3K14):c.458C>A (p.Ser153Tyr)
NM_003954.5(MAP3K14):c.464C>T (p.Ala155Val) rs2044274532
NM_003954.5(MAP3K14):c.466C>T (p.His156Tyr) rs2044274486
NM_003954.5(MAP3K14):c.485C>T (p.Ala162Val) rs2143821845
NM_003954.5(MAP3K14):c.488A>G (p.Lys163Arg) rs2044274274
NM_003954.5(MAP3K14):c.538-5C>A rs374961674
NM_003954.5(MAP3K14):c.580C>T (p.Pro194Ser)
NM_003954.5(MAP3K14):c.584A>G (p.Gln195Arg) rs749612705
NM_003954.5(MAP3K14):c.609A>G (p.Pro203=)
NM_003954.5(MAP3K14):c.61_73del (p.Glu21fs)
NM_003954.5(MAP3K14):c.641G>A (p.Gly214Asp) rs2143821057
NM_003954.5(MAP3K14):c.64C>T (p.Leu22Phe) rs748799109
NM_003954.5(MAP3K14):c.652C>T (p.Arg218Trp)
NM_003954.5(MAP3K14):c.667C>T (p.Arg223Ter) rs2044270748
NM_003954.5(MAP3K14):c.735C>T (p.Pro245=)
NM_003954.5(MAP3K14):c.742G>A (p.Gly248Arg) rs2044269990
NM_003954.5(MAP3K14):c.769C>T (p.Pro257Ser) rs2143820623
NM_003954.5(MAP3K14):c.775C>T (p.Pro259Ser) rs2143820595
NM_003954.5(MAP3K14):c.783C>G (p.Ser261Arg) rs765537731
NM_003954.5(MAP3K14):c.820C>T (p.Pro274Ser) rs747466210
NM_003954.5(MAP3K14):c.836C>T (p.Pro279Leu)
NM_003954.5(MAP3K14):c.844T>C (p.Ser282Pro) rs1375874603
NM_003954.5(MAP3K14):c.884C>T (p.Pro295Leu) rs1055681030
NM_003954.5(MAP3K14):c.89C>T (p.Pro30Leu)
NM_003954.5(MAP3K14):c.923A>T (p.Asp308Val) rs2044267741
NM_003954.5(MAP3K14):c.934C>G (p.Pro312Ala) rs201022790
NM_003954.5(MAP3K14):c.977G>A (p.Gly326Asp) rs2044266743
NM_003954.5(MAP3K14):c.997G>A (p.Val333Met)

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