ClinVar Miner

List of variants reported as likely benign for NIK deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala) rs56302559 0.00209
NM_003954.5(MAP3K14):c.880A>C (p.Lys294Gln) rs113278485 0.00127
NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile) rs367938510 0.00102
NM_003954.5(MAP3K14):c.1525C>A (p.Arg509=) rs200666941 0.00078
NM_003954.5(MAP3K14):c.1009C>T (p.Leu337=) rs374376396 0.00071
NM_003954.5(MAP3K14):c.1103G>A (p.Arg368Gln) rs200062238 0.00059
NM_003954.5(MAP3K14):c.2434-14T>C rs370090288 0.00047
NM_003954.5(MAP3K14):c.1891C>G (p.Gln631Glu) rs555553445 0.00025
NM_003954.5(MAP3K14):c.1660G>T (p.Asp554Tyr) rs770924893 0.00016
NM_003954.5(MAP3K14):c.257-19C>G rs372408568 0.00016
NM_003954.5(MAP3K14):c.1386G>A (p.Gly462=) rs747187875 0.00013
NM_003954.5(MAP3K14):c.1455C>T (p.Gly485=) rs549438131 0.00011
NM_003954.5(MAP3K14):c.2679+14G>A rs370678725 0.00011
NM_003954.5(MAP3K14):c.1560C>T (p.Asn520=) rs369325118 0.00010
NM_003954.5(MAP3K14):c.2520C>T (p.Ser840=) rs571898629 0.00010
NM_003954.5(MAP3K14):c.538-4G>C rs534556740 0.00010
NM_003954.5(MAP3K14):c.2579-17C>T rs752410947 0.00009
NM_003954.5(MAP3K14):c.555C>T (p.Leu185=) rs191629489 0.00009
NM_003954.5(MAP3K14):c.1803A>G (p.Arg601=) rs371145129 0.00006
NM_003954.5(MAP3K14):c.2082G>A (p.Ser694=) rs55828586 0.00006
NM_003954.5(MAP3K14):c.2511T>C (p.Ala837=) rs376746377 0.00006
NM_003954.5(MAP3K14):c.2754G>A (p.Ser918=) rs55750938 0.00006
NM_003954.5(MAP3K14):c.764C>T (p.Thr255Met) rs11574820 0.00006
NM_003954.5(MAP3K14):c.1290+15_1290+16del rs775262291 0.00005
NM_003954.5(MAP3K14):c.1587C>T (p.His529=) rs562409633 0.00005
NM_003954.5(MAP3K14):c.1635C>T (p.Gly545=) rs769521033 0.00005
NM_003954.5(MAP3K14):c.1695G>A (p.Pro565=) rs371866775 0.00005
NM_003954.5(MAP3K14):c.1821+19C>A rs550389689 0.00005
NM_003954.5(MAP3K14):c.87G>A (p.Thr29=) rs191832585 0.00005
NM_003954.5(MAP3K14):c.1203G>A (p.Thr401=) rs563987219 0.00004
NM_003954.5(MAP3K14):c.1359C>T (p.Val453=) rs771040753 0.00004
NM_003954.5(MAP3K14):c.1809G>A (p.Pro603=) rs776444527 0.00004
NM_003954.5(MAP3K14):c.1972+17G>A rs775830118 0.00004
NM_003954.5(MAP3K14):c.2298G>A (p.Pro766=) rs17846846 0.00004
NM_003954.5(MAP3K14):c.2433+8G>A rs921192159 0.00004
NM_003954.5(MAP3K14):c.651A>G (p.Leu217=) rs766144092 0.00004
NM_003954.5(MAP3K14):c.1146C>T (p.Leu382=) rs372591708 0.00003
NM_003954.5(MAP3K14):c.1290+19G>A rs757710496 0.00003
NM_003954.5(MAP3K14):c.2433+19C>T rs767804591 0.00003
NM_003954.5(MAP3K14):c.2579-10C>T rs200536331 0.00003
NM_003954.5(MAP3K14):c.2679+7G>A rs776479300 0.00003
NM_003954.5(MAP3K14):c.2694C>T (p.Ala898=) rs374276374 0.00003
NM_003954.5(MAP3K14):c.2820T>C (p.His940=) rs751517422 0.00003
NM_003954.5(MAP3K14):c.582G>A (p.Pro194=) rs377307410 0.00003
NM_003954.5(MAP3K14):c.1131C>T (p.Asn377=) rs750776653 0.00002
NM_003954.5(MAP3K14):c.1153-9C>G rs1207743677 0.00002
NM_003954.5(MAP3K14):c.1552+19G>A rs370127257 0.00002
NM_003954.5(MAP3K14):c.2070G>A (p.Pro690=) rs748652165 0.00002
NM_003954.5(MAP3K14):c.2161C>T (p.Pro721Ser) rs772435508 0.00002
NM_003954.5(MAP3K14):c.2337C>T (p.Leu779=) rs1002787088 0.00002
NM_003954.5(MAP3K14):c.2579-9G>A rs113136467 0.00002
NM_003954.5(MAP3K14):c.2742G>A (p.Glu914=) rs775630194 0.00002
NM_003954.5(MAP3K14):c.2769G>A (p.Gln923=) rs569076798 0.00002
NM_003954.5(MAP3K14):c.711C>T (p.Asn237=) rs763424905 0.00002
NM_003954.5(MAP3K14):c.741C>T (p.Asp247=) rs754605998 0.00002
NM_003954.5(MAP3K14):c.1098A>G (p.Arg366=) rs772065458 0.00001
NM_003954.5(MAP3K14):c.1122T>C (p.Thr374=) rs56284014 0.00001
NM_003954.5(MAP3K14):c.1152+14C>T rs770541789 0.00001
NM_003954.5(MAP3K14):c.1278C>T (p.Cys426=) rs545902026 0.00001
NM_003954.5(MAP3K14):c.1281T>C (p.Ala427=) rs1330178857 0.00001
NM_003954.5(MAP3K14):c.1291-9C>T rs191332614 0.00001
NM_003954.5(MAP3K14):c.1293G>A (p.Val431=) rs761717072 0.00001
NM_003954.5(MAP3K14):c.1356T>A (p.Ile452=) rs1398498500 0.00001
NM_003954.5(MAP3K14):c.138G>A (p.Glu46=) rs759706778 0.00001
NM_003954.5(MAP3K14):c.1413G>A (p.Leu471=) rs2044164016 0.00001
NM_003954.5(MAP3K14):c.1464A>G (p.Pro488=) rs777565576 0.00001
NM_003954.5(MAP3K14):c.1479G>A (p.Leu493=) rs1368301656 0.00001
NM_003954.5(MAP3K14):c.1518C>T (p.Leu506=) rs2044161387 0.00001
NM_003954.5(MAP3K14):c.1578T>C (p.Asp526=) rs1280498383 0.00001
NM_003954.5(MAP3K14):c.1657+9C>T rs774494640 0.00001
NM_003954.5(MAP3K14):c.168G>A (p.Glu56=) rs530385135 0.00001
NM_003954.5(MAP3K14):c.1719C>T (p.Cys573=) rs1345742607 0.00001
NM_003954.5(MAP3K14):c.1821+11G>T rs755279962 0.00001
NM_003954.5(MAP3K14):c.1875C>T (p.Leu625=) rs1304201527 0.00001
NM_003954.5(MAP3K14):c.1962A>G (p.Ala654=) rs1221758717 0.00001
NM_003954.5(MAP3K14):c.1972+16C>T rs370694731 0.00001
NM_003954.5(MAP3K14):c.2235G>A (p.Leu745=) rs1356632359 0.00001
NM_003954.5(MAP3K14):c.2292C>T (p.Thr764=) rs746706058 0.00001
NM_003954.5(MAP3K14):c.2313G>A (p.Gln771=) rs780159331 0.00001
NM_003954.5(MAP3K14):c.2326+12C>T rs751958888 0.00001
NM_003954.5(MAP3K14):c.2331A>G (p.Leu777=) rs1055184427 0.00001
NM_003954.5(MAP3K14):c.2388G>A (p.Ser796=) rs553632905 0.00001
NM_003954.5(MAP3K14):c.2400C>T (p.Ile800=) rs1472098648 0.00001
NM_003954.5(MAP3K14):c.2556C>T (p.Thr852=) rs754437858 0.00001
NM_003954.5(MAP3K14):c.257-20_257-19insG rs1490224605 0.00001
NM_003954.5(MAP3K14):c.2715C>T (p.Asp905=) rs371657957 0.00001
NM_003954.5(MAP3K14):c.2796C>T (p.Phe932=) rs781184920 0.00001
NM_003954.5(MAP3K14):c.2826G>A (p.Gln942=) rs764077846 0.00001
NM_003954.5(MAP3K14):c.306C>T (p.Ile102=) rs759009271 0.00001
NM_003954.5(MAP3K14):c.333C>T (p.Ser111=) rs781609822 0.00001
NM_003954.5(MAP3K14):c.416G>A (p.Arg139His) rs533327337 0.00001
NM_003954.5(MAP3K14):c.538-7C>T rs752362061 0.00001
NM_003954.5(MAP3K14):c.903G>A (p.Leu301=) rs994758788 0.00001
NM_003954.5(MAP3K14):c.936C>T (p.Pro312=) rs769466496 0.00001
NM_003954.5(MAP3K14):c.1002G>A (p.Glu334=)
NM_003954.5(MAP3K14):c.102G>A (p.Lys34=) rs2044302989
NM_003954.5(MAP3K14):c.1066C>T (p.Leu356=)
NM_003954.5(MAP3K14):c.1134G>A (p.Glu378=)
NM_003954.5(MAP3K14):c.1140C>T (p.Val380=) rs762415741
NM_003954.5(MAP3K14):c.1152+11C>T
NM_003954.5(MAP3K14):c.1152+12C>T
NM_003954.5(MAP3K14):c.1152+19C>T rs1024428690
NM_003954.5(MAP3K14):c.1180C>A (p.Arg394=)
NM_003954.5(MAP3K14):c.1206C>T (p.His402=) rs765832972
NM_003954.5(MAP3K14):c.1221C>T (p.Gly407=) rs767399522
NM_003954.5(MAP3K14):c.1233C>T (p.Phe411=)
NM_003954.5(MAP3K14):c.1257C>T (p.Asp419=) rs2143815949
NM_003954.5(MAP3K14):c.1290+20del rs2143815788
NM_003954.5(MAP3K14):c.1420+9C>G rs2143792028
NM_003954.5(MAP3K14):c.1421-15C>T
NM_003954.5(MAP3K14):c.1443C>G (p.Val481=)
NM_003954.5(MAP3K14):c.1467G>A (p.Glu489=)
NM_003954.5(MAP3K14):c.1545C>T (p.Asp515=)
NM_003954.5(MAP3K14):c.1552+14C>T rs2143790995
NM_003954.5(MAP3K14):c.1552+16C>T rs866299817
NM_003954.5(MAP3K14):c.1552+18C>A rs372021923
NM_003954.5(MAP3K14):c.1553-11C>T
NM_003954.5(MAP3K14):c.1569G>A (p.Leu523=)
NM_003954.5(MAP3K14):c.1569G>T (p.Leu523=)
NM_003954.5(MAP3K14):c.1575C>T (p.Ser525=)
NM_003954.5(MAP3K14):c.162G>A (p.Lys54=)
NM_003954.5(MAP3K14):c.1657+11C>G rs2143789384
NM_003954.5(MAP3K14):c.1658-12C>A
NM_003954.5(MAP3K14):c.1658-9C>T
NM_003954.5(MAP3K14):c.1707G>T (p.Leu569=)
NM_003954.5(MAP3K14):c.1761G>T (p.Leu587=)
NM_003954.5(MAP3K14):c.1809G>C (p.Pro603=) rs776444527
NM_003954.5(MAP3K14):c.1821+10G>A
NM_003954.5(MAP3K14):c.1821+9C>T
NM_003954.5(MAP3K14):c.1822-19G>A rs1049592564
NM_003954.5(MAP3K14):c.1822-8dup rs566215281
NM_003954.5(MAP3K14):c.1830C>T (p.Ser610=) rs781573292
NM_003954.5(MAP3K14):c.1839G>A (p.Pro613=)
NM_003954.5(MAP3K14):c.1857A>T (p.Pro619=)
NM_003954.5(MAP3K14):c.1875C>G (p.Leu625=)
NM_003954.5(MAP3K14):c.1881C>T (p.Ala627=)
NM_003954.5(MAP3K14):c.1902G>A (p.Leu634=)
NM_003954.5(MAP3K14):c.1911G>A (p.Glu637=) rs550503340
NM_003954.5(MAP3K14):c.1935G>A (p.Ala645=)
NM_003954.5(MAP3K14):c.1972+15_1972+16insACAGCAAGGTAGGAAGAGCCCCAGC rs756731445
NM_003954.5(MAP3K14):c.1972+16C>G rs370694731
NM_003954.5(MAP3K14):c.1973-11C>A rs986607520
NM_003954.5(MAP3K14):c.1973-11C>G rs986607520
NM_003954.5(MAP3K14):c.2028G>A (p.Pro676=)
NM_003954.5(MAP3K14):c.2094A>G (p.Pro698=)
NM_003954.5(MAP3K14):c.2109T>G (p.Ala703=) rs1365061491
NM_003954.5(MAP3K14):c.213C>T (p.Ser71=)
NM_003954.5(MAP3K14):c.2147C>G (p.Pro716Arg) rs202201840
NM_003954.5(MAP3K14):c.2175C>T (p.Asn725=)
NM_003954.5(MAP3K14):c.2184T>C (p.Pro728=)
NM_003954.5(MAP3K14):c.2193T>A (p.Thr731=)
NM_003954.5(MAP3K14):c.2247G>A (p.Glu749=)
NM_003954.5(MAP3K14):c.2308C>T (p.Leu770=) rs1191083395
NM_003954.5(MAP3K14):c.2327-20T>A
NM_003954.5(MAP3K14):c.2327-20T>C
NM_003954.5(MAP3K14):c.2329T>C (p.Leu777=) rs2044094797
NM_003954.5(MAP3K14):c.2367G>A (p.Glu789=) rs867203970
NM_003954.5(MAP3K14):c.2418G>C (p.Ser806=) rs190992383
NM_003954.5(MAP3K14):c.2433+18C>T
NM_003954.5(MAP3K14):c.2434-7G>A
NM_003954.5(MAP3K14):c.243C>T (p.Ile81=) rs752639003
NM_003954.5(MAP3K14):c.2460G>A (p.Ser820=)
NM_003954.5(MAP3K14):c.2460G>T (p.Ser820=)
NM_003954.5(MAP3K14):c.2461C>A (p.Arg821=) rs755535038
NM_003954.5(MAP3K14):c.2481C>T (p.Gly827=)
NM_003954.5(MAP3K14):c.24C>T (p.Cys8=)
NM_003954.5(MAP3K14):c.2502G>A (p.Gln834=) rs2143767039
NM_003954.5(MAP3K14):c.2553C>G (p.Pro851=)
NM_003954.5(MAP3K14):c.257-16A>C
NM_003954.5(MAP3K14):c.257-17A>C rs2143827754
NM_003954.5(MAP3K14):c.2628G>A (p.Arg876=) rs1598236761
NM_003954.5(MAP3K14):c.2679+11C>G rs1351316232
NM_003954.5(MAP3K14):c.2700C>T (p.Ser900=)
NM_003954.5(MAP3K14):c.2727T>A (p.Val909=)
NM_003954.5(MAP3K14):c.2760C>T (p.Ile920=)
NM_003954.5(MAP3K14):c.2832G>A (p.Glu944=)
NM_003954.5(MAP3K14):c.326+13G>A
NM_003954.5(MAP3K14):c.477G>C (p.Val159=)
NM_003954.5(MAP3K14):c.537+15C>T
NM_003954.5(MAP3K14):c.537+16C>T
NM_003954.5(MAP3K14):c.537+7C>A rs552999139
NM_003954.5(MAP3K14):c.538-10C>T
NM_003954.5(MAP3K14):c.538-13T>C
NM_003954.5(MAP3K14):c.538-17T>A
NM_003954.5(MAP3K14):c.538-4G>A rs534556740
NM_003954.5(MAP3K14):c.538-8C>G
NM_003954.5(MAP3K14):c.538-9C>G
NM_003954.5(MAP3K14):c.546G>A (p.Glu182=)
NM_003954.5(MAP3K14):c.561C>A (p.Ala187=)
NM_003954.5(MAP3K14):c.579C>T (p.Thr193=)
NM_003954.5(MAP3K14):c.714C>T (p.His238=)
NM_003954.5(MAP3K14):c.735C>G (p.Pro245=)
NM_003954.5(MAP3K14):c.747C>G (p.Gly249=)
NM_003954.5(MAP3K14):c.765G>A (p.Thr255=) rs757369234
NM_003954.5(MAP3K14):c.816C>T (p.Leu272=)
NM_003954.5(MAP3K14):c.822C>T (p.Pro274=)
NM_003954.5(MAP3K14):c.859C>T (p.Leu287=)
NM_003954.5(MAP3K14):c.861G>T (p.Leu287=)
NM_003954.5(MAP3K14):c.885C>T (p.Pro295=)
NM_003954.5(MAP3K14):c.90G>A (p.Pro30=)
NM_003954.5(MAP3K14):c.90G>T (p.Pro30=) rs756983132
NM_003954.5(MAP3K14):c.918T>C (p.Cys306=) rs761264502
NM_003954.5(MAP3K14):c.969G>C (p.Leu323=) rs1353820353
NM_003954.5(MAP3K14):c.981C>T (p.Ala327=) rs1414825267

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