ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency, common variable, 10 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp) rs200373995 0.00024
NM_001322934.2(NFKB2):c.736G>A (p.Val246Ile) rs368808361 0.00021
NM_001322934.2(NFKB2):c.2174G>A (p.Arg725Gln) rs374942288 0.00016
NM_001322934.2(NFKB2):c.1993A>T (p.Thr665Ser) rs200139098 0.00006
NM_001322934.2(NFKB2):c.2578+6G>A rs779697693 0.00006
NM_001322934.2(NFKB2):c.1097G>A (p.Gly366Asp) rs747854969 0.00005
NM_001322934.2(NFKB2):c.1700C>T (p.Ala567Val) rs199841036 0.00005
NM_001322934.2(NFKB2):c.1772A>T (p.Gln591Leu) rs375798485 0.00005
NM_001322934.2(NFKB2):c.2144C>T (p.Ser715Leu) rs527505889 0.00005
NM_001322934.2(NFKB2):c.1258G>A (p.Ala420Thr) rs1288456438 0.00004
NM_001322934.2(NFKB2):c.1340A>G (p.Asn447Ser) rs1209220432 0.00004
NM_001322934.2(NFKB2):c.1407C>G (p.Asp469Glu) rs772211653 0.00004
NM_001322934.2(NFKB2):c.14A>G (p.Tyr5Cys) rs200361192 0.00004
NM_001322934.2(NFKB2):c.2042C>T (p.Pro681Leu) rs534798728 0.00004
NM_001322934.2(NFKB2):c.2186G>A (p.Arg729Gln) rs201099063 0.00004
NM_001322934.2(NFKB2):c.243+3G>A rs547044500 0.00004
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206 0.00004
NM_001322934.2(NFKB2):c.1378G>A (p.Ala460Thr) rs778522439 0.00003
NM_001322934.2(NFKB2):c.143A>C (p.Gln48Pro) rs755916743 0.00003
NM_001322934.2(NFKB2):c.1973G>A (p.Arg658Gln) rs574309302 0.00003
NM_001322934.2(NFKB2):c.2558G>A (p.Arg853Gln) rs377577926 0.00003
NM_001322934.2(NFKB2):c.472C>T (p.Arg158Trp) rs776075705 0.00003
NM_001322934.2(NFKB2):c.74T>C (p.Val25Ala) rs1379133748 0.00003
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr) rs749068539 0.00002
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val) rs780831146 0.00002
NM_001322934.2(NFKB2):c.1602G>A (p.Ala534=) rs764692852 0.00002
NM_001322934.2(NFKB2):c.1726G>C (p.Glu576Gln) rs1306109565 0.00002
NM_001322934.2(NFKB2):c.1865G>C (p.Ser622Thr) rs942415314 0.00002
NM_001322934.2(NFKB2):c.2650C>G (p.Pro884Ala) rs752257888 0.00002
NM_001322934.2(NFKB2):c.2689C>T (p.Pro897Ser) rs770818840 0.00002
NM_001322934.2(NFKB2):c.502+6G>A rs767603642 0.00002
NM_001322934.2(NFKB2):c.515G>A (p.Arg172Gln) rs779769505 0.00002
NM_001322934.2(NFKB2):c.62A>G (p.Asn21Ser) rs577190240 0.00002
NM_001322934.2(NFKB2):c.722G>A (p.Arg241Gln) rs772667682 0.00002
NM_001322934.2(NFKB2):c.1051G>A (p.Gly351Arg) rs45580031 0.00001
NM_001322934.2(NFKB2):c.1061C>T (p.Ser354Phe) rs777777444 0.00001
NM_001322934.2(NFKB2):c.1286C>T (p.Thr429Ile) rs1458287262 0.00001
NM_001322934.2(NFKB2):c.1301C>T (p.Pro434Leu) rs1024428958 0.00001
NM_001322934.2(NFKB2):c.1323G>T (p.Gln441His) rs1175561541 0.00001
NM_001322934.2(NFKB2):c.1424C>T (p.Ala475Val) rs1482556968 0.00001
NM_001322934.2(NFKB2):c.1469+4G>A rs1055046721 0.00001
NM_001322934.2(NFKB2):c.1553G>A (p.Gly518Asp) rs916599971 0.00001
NM_001322934.2(NFKB2):c.1664T>C (p.Leu555Pro) rs1047108117 0.00001
NM_001322934.2(NFKB2):c.1673G>A (p.Arg558Gln) rs1251274851 0.00001
NM_001322934.2(NFKB2):c.1692G>A (p.Met564Ile) rs2061210768 0.00001
NM_001322934.2(NFKB2):c.1714G>A (p.Ala572Thr) rs774941850 0.00001
NM_001322934.2(NFKB2):c.1832G>A (p.Arg611Gln) rs766330104 0.00001
NM_001322934.2(NFKB2):c.1892G>A (p.Arg631Gln) rs757608785 0.00001
NM_001322934.2(NFKB2):c.1904G>A (p.Arg635Gln) rs768349324 0.00001
NM_001322934.2(NFKB2):c.2086G>A (p.Ala696Thr) rs377677859 0.00001
NM_001322934.2(NFKB2):c.2132C>G (p.Ser711Cys) rs368533449 0.00001
NM_001322934.2(NFKB2):c.2156G>A (p.Gly719Glu) rs761793192 0.00001
NM_001322934.2(NFKB2):c.221G>A (p.Arg74Gln) rs774802098 0.00001
NM_001322934.2(NFKB2):c.2293+3G>A rs765164173 0.00001
NM_001322934.2(NFKB2):c.22G>C (p.Gly8Arg) rs922475027 0.00001
NM_001322934.2(NFKB2):c.2347G>A (p.Asp783Asn) rs751333753 0.00001
NM_001322934.2(NFKB2):c.2401C>T (p.Arg801Cys) rs371174743 0.00001
NM_001322934.2(NFKB2):c.2423G>A (p.Arg808Gln) rs1261067166 0.00001
NM_001322934.2(NFKB2):c.2431A>G (p.Thr811Ala) rs1477476002 0.00001
NM_001322934.2(NFKB2):c.2455C>T (p.Arg819Cys) rs374041971 0.00001
NM_001322934.2(NFKB2):c.2464G>A (p.Glu822Lys) rs1274576794 0.00001
NM_001322934.2(NFKB2):c.2512A>T (p.Met838Leu) rs759518899 0.00001
NM_001322934.2(NFKB2):c.2671T>C (p.Cys891Arg) rs1411498190 0.00001
NM_001322934.2(NFKB2):c.662-5C>T rs1469839251 0.00001
NC_000010.10:g.(?_104155697)_(104162153_?)dup
NC_000010.10:g.(?_104159421)_(104162033_?)del
NM_001322934.2(NFKB2):c.1024G>C (p.Ala342Pro)
NM_001322934.2(NFKB2):c.1050C>A (p.Phe350Leu)
NM_001322934.2(NFKB2):c.1065C>G (p.His355Gln) rs1482942916
NM_001322934.2(NFKB2):c.1067T>C (p.Met356Thr) rs757746385
NM_001322934.2(NFKB2):c.1079C>T (p.Ser360Phe)
NM_001322934.2(NFKB2):c.1084G>C (p.Gly362Arg)
NM_001322934.2(NFKB2):c.1087G>A (p.Ala363Thr) rs2135433337
NM_001322934.2(NFKB2):c.1088C>T (p.Ala363Val)
NM_001322934.2(NFKB2):c.1090G>A (p.Ala364Thr)
NM_001322934.2(NFKB2):c.1093G>A (p.Gly365Arg) rs1425541702
NM_001322934.2(NFKB2):c.1097G>C (p.Gly366Ala) rs747854969
NM_001322934.2(NFKB2):c.1103G>A (p.Gly368Glu) rs1321875454
NM_001322934.2(NFKB2):c.1120G>A (p.Gly374Ser) rs2135434538
NM_001322934.2(NFKB2):c.1137C>A (p.Phe379Leu) rs920445238
NM_001322934.2(NFKB2):c.1138C>T (p.Pro380Ser) rs1430785222
NM_001322934.2(NFKB2):c.1154A>G (p.Tyr385Cys) rs2135434659
NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys) rs758025082
NM_001322934.2(NFKB2):c.1167G>C (p.Gln389His)
NM_001322934.2(NFKB2):c.1183A>C (p.Met395Leu) rs1461691110
NM_001322934.2(NFKB2):c.1183A>T (p.Met395Leu)
NM_001322934.2(NFKB2):c.1192T>C (p.Tyr398His)
NM_001322934.2(NFKB2):c.1196C>T (p.Pro399Leu)
NM_001322934.2(NFKB2):c.1202G>A (p.Gly401Asp)
NM_001322934.2(NFKB2):c.1210G>A (p.Gly404Arg) rs1257376973
NM_001322934.2(NFKB2):c.1214C>A (p.Ala405Glu) rs773329863
NM_001322934.2(NFKB2):c.1214C>T (p.Ala405Val) rs773329863
NM_001322934.2(NFKB2):c.1219A>G (p.Met407Val)
NM_001322934.2(NFKB2):c.1225G>C (p.Ala409Pro)
NM_001322934.2(NFKB2):c.1225G>T (p.Ala409Ser)
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met) rs1175800328
NM_001322934.2(NFKB2):c.1239C>G (p.Ser413Arg)
NM_001322934.2(NFKB2):c.1241G>A (p.Arg414Lys)
NM_001322934.2(NFKB2):c.1242G>C (p.Arg414Ser) rs555513845
NM_001322934.2(NFKB2):c.1267C>T (p.Pro423Ser) rs756080515
NM_001322934.2(NFKB2):c.1283G>A (p.Arg428Lys)
NM_001322934.2(NFKB2):c.1285A>G (p.Thr429Ala)
NM_001322934.2(NFKB2):c.1285A>T (p.Thr429Ser) rs1405716353
NM_001322934.2(NFKB2):c.1286C>A (p.Thr429Asn)
NM_001322934.2(NFKB2):c.1289C>T (p.Pro430Leu)
NM_001322934.2(NFKB2):c.1303C>A (p.Gln435Lys)
NM_001322934.2(NFKB2):c.1306G>A (p.Ala436Thr)
NM_001322934.2(NFKB2):c.1306G>T (p.Ala436Ser) rs2135435274
NM_001322934.2(NFKB2):c.1310C>T (p.Pro437Leu) rs2061183432
NM_001322934.2(NFKB2):c.1325G>A (p.Arg442Gln)
NM_001322934.2(NFKB2):c.1327+1G>A
NM_001322934.2(NFKB2):c.1327+4T>C rs2135435340
NM_001322934.2(NFKB2):c.1331G>A (p.Arg444Gln) rs1312906894
NM_001322934.2(NFKB2):c.1341C>G (p.Asn447Lys)
NM_001322934.2(NFKB2):c.1343C>T (p.Ala448Val)
NM_001322934.2(NFKB2):c.1345C>G (p.Arg449Gly)
NM_001322934.2(NFKB2):c.1354G>A (p.Gly452Ser)
NM_001322934.2(NFKB2):c.1366C>G (p.Arg456Gly)
NM_001322934.2(NFKB2):c.1369A>C (p.Ser457Arg) rs1589865861
NM_001322934.2(NFKB2):c.1369A>G (p.Ser457Gly) rs1589865861
NM_001322934.2(NFKB2):c.1373C>T (p.Ala458Val)
NM_001322934.2(NFKB2):c.1375C>G (p.Arg459Gly)
NM_001322934.2(NFKB2):c.1376G>A (p.Arg459Gln)
NM_001322934.2(NFKB2):c.1399A>G (p.Thr467Ala)
NM_001322934.2(NFKB2):c.13T>G (p.Tyr5Asp)
NM_001322934.2(NFKB2):c.1414G>A (p.Ala472Thr)
NM_001322934.2(NFKB2):c.1423G>A (p.Ala475Thr)
NM_001322934.2(NFKB2):c.143_144+38dup rs750661181
NM_001322934.2(NFKB2):c.144+18_144+21del rs2135428957
NM_001322934.2(NFKB2):c.145-3C>T
NM_001322934.2(NFKB2):c.145-6C>T
NM_001322934.2(NFKB2):c.1463G>A (p.Gly488Glu) rs2135436109
NM_001322934.2(NFKB2):c.146G>C (p.Arg49Thr)
NM_001322934.2(NFKB2):c.1470-8_1470-2dup rs762347682
NM_001322934.2(NFKB2):c.1496G>A (p.Gly499Glu)
NM_001322934.2(NFKB2):c.1519A>G (p.Ile507Val) rs1589867038
NM_001322934.2(NFKB2):c.1524C>G (p.Val508=) rs2061203325
NM_001322934.2(NFKB2):c.1534C>T (p.His512Tyr) rs2135437164
NM_001322934.2(NFKB2):c.155G>A (p.Arg52Gln) rs2135429414
NM_001322934.2(NFKB2):c.1564C>A (p.Leu522Ile) rs200575158
NM_001322934.2(NFKB2):c.1581C>A (p.His527Gln)
NM_001322934.2(NFKB2):c.1584+3G>C rs1242969135
NM_001322934.2(NFKB2):c.1584+4C>T rs745719651
NM_001322934.2(NFKB2):c.1584+5G>T
NM_001322934.2(NFKB2):c.1601C>T (p.Ala534Val) rs759174968
NM_001322934.2(NFKB2):c.1603G>A (p.Val535Met)
NM_001322934.2(NFKB2):c.1619C>T (p.Thr540Met) rs1131691948
NM_001322934.2(NFKB2):c.1621A>C (p.Ser541Arg) rs1310195093
NM_001322934.2(NFKB2):c.1625T>C (p.Val542Ala)
NM_001322934.2(NFKB2):c.1642_1668del (p.Arg548_Leu556del)
NM_001322934.2(NFKB2):c.1643G>A (p.Arg548Gln)
NM_001322934.2(NFKB2):c.1643G>C (p.Arg548Pro)
NM_001322934.2(NFKB2):c.1672C>T (p.Arg558Trp)
NM_001322934.2(NFKB2):c.1681G>A (p.Asp561Asn)
NM_001322934.2(NFKB2):c.1684T>A (p.Ser562Thr)
NM_001322934.2(NFKB2):c.1687G>C (p.Ala563Pro)
NM_001322934.2(NFKB2):c.1696C>G (p.Leu566Val)
NM_001322934.2(NFKB2):c.1699_1734dup (p.Ala567_Leu578dup) rs2061210837
NM_001322934.2(NFKB2):c.1706G>A (p.Arg569Gln)
NM_001322934.2(NFKB2):c.1715C>G (p.Ala572Gly) rs997689416
NM_001322934.2(NFKB2):c.1735C>T (p.Arg579Cys) rs763966838
NM_001322934.2(NFKB2):c.1741C>G (p.Leu581Val) rs1589867877
NM_001322934.2(NFKB2):c.1744C>T (p.Leu582Phe) rs1589867900
NM_001322934.2(NFKB2):c.1759C>T (p.Pro587Ser)
NM_001322934.2(NFKB2):c.1760C>T (p.Pro587Leu)
NM_001322934.2(NFKB2):c.1762G>C (p.Ala588Pro)
NM_001322934.2(NFKB2):c.1781A>G (p.His594Arg)
NM_001322934.2(NFKB2):c.1798+3G>A
NM_001322934.2(NFKB2):c.1798+6C>T rs766709208
NM_001322934.2(NFKB2):c.1798G>A (p.Gly600Arg)
NM_001322934.2(NFKB2):c.1799G>A (p.Gly600Glu)
NM_001322934.2(NFKB2):c.1828G>A (p.Ala610Thr)
NM_001322934.2(NFKB2):c.1835G>A (p.Ser612Asn)
NM_001322934.2(NFKB2):c.1837C>T (p.Pro613Ser)
NM_001322934.2(NFKB2):c.1866T>A (p.Ser622Arg)
NM_001322934.2(NFKB2):c.1883C>T (p.Ala628Val) rs2061220592
NM_001322934.2(NFKB2):c.1891C>T (p.Arg631Trp)
NM_001322934.2(NFKB2):c.1892G>T (p.Arg631Leu) rs757608785
NM_001322934.2(NFKB2):c.1936G>A (p.Glu646Lys)
NM_001322934.2(NFKB2):c.1954C>T (p.His652Tyr)
NM_001322934.2(NFKB2):c.1980C>A (p.Asn660Lys) rs770000992
NM_001322934.2(NFKB2):c.1987G>T (p.Ala663Ser)
NM_001322934.2(NFKB2):c.1988C>T (p.Ala663Val)
NM_001322934.2(NFKB2):c.1994C>A (p.Thr665Asn)
NM_001322934.2(NFKB2):c.2001G>A (p.Ala667=) rs944124507
NM_001322934.2(NFKB2):c.2050A>C (p.Thr684Pro) rs2135439371
NM_001322934.2(NFKB2):c.2053C>G (p.Arg685Gly)
NM_001322934.2(NFKB2):c.2072-16G>A
NM_001322934.2(NFKB2):c.2119T>A (p.Ser707Thr)
NM_001322934.2(NFKB2):c.2122C>G (p.Pro708Ala) rs1237396659
NM_001322934.2(NFKB2):c.2122C>T (p.Pro708Ser)
NM_001322934.2(NFKB2):c.2125C>A (p.Pro709Thr)
NM_001322934.2(NFKB2):c.2125C>T (p.Pro709Ser)
NM_001322934.2(NFKB2):c.2149T>C (p.Ser717Pro)
NM_001322934.2(NFKB2):c.2183T>G (p.Phe728Cys)
NM_001322934.2(NFKB2):c.2184C>G (p.Phe728Leu) rs2061240413
NM_001322934.2(NFKB2):c.2195C>T (p.Thr732Met)
NM_001322934.2(NFKB2):c.2249C>G (p.Ala750Gly) rs41293042
NM_001322934.2(NFKB2):c.2278C>T (p.Pro760Ser) rs2061247896
NM_001322934.2(NFKB2):c.2285G>A (p.Ser762Asn) rs2061248136
NM_001322934.2(NFKB2):c.2288C>T (p.Pro763Leu) rs2061248353
NM_001322934.2(NFKB2):c.2294-12T>C
NM_001322934.2(NFKB2):c.2308C>T (p.Leu770Phe)
NM_001322934.2(NFKB2):c.2332C>A (p.Leu778Met)
NM_001322934.2(NFKB2):c.2333T>C (p.Leu778Pro) rs1565213628
NM_001322934.2(NFKB2):c.2349C>A (p.Asp783Glu) rs762058625
NM_001322934.2(NFKB2):c.2353C>G (p.Pro785Ala) rs1404051917
NM_001322934.2(NFKB2):c.2368A>T (p.Ser790Cys) rs2135441739
NM_001322934.2(NFKB2):c.2369G>C (p.Ser790Thr)
NM_001322934.2(NFKB2):c.2390G>A (p.Arg797His)
NM_001322934.2(NFKB2):c.243+6C>G
NM_001322934.2(NFKB2):c.2459G>A (p.Ser820Asn) rs2061262864
NM_001322934.2(NFKB2):c.2466+3G>A rs996686526
NM_001322934.2(NFKB2):c.2467C>T (p.Leu823=)
NM_001322934.2(NFKB2):c.2476G>A (p.Gly826Arg)
NM_001322934.2(NFKB2):c.2479G>A (p.Asp827Asn) rs545655588
NM_001322934.2(NFKB2):c.2498A>G (p.Glu833Gly) rs1260304888
NM_001322934.2(NFKB2):c.2510A>T (p.Asp837Val)
NM_001322934.2(NFKB2):c.2531T>C (p.Val844Ala) rs1450204584
NM_001322934.2(NFKB2):c.2544_2547delinsCCTCGG (p.Arg848fs) rs1589873803
NM_001322934.2(NFKB2):c.2546G>T (p.Gly849Val)
NM_001322934.2(NFKB2):c.2549C>T (p.Pro850Leu) rs373030358
NM_001322934.2(NFKB2):c.2550_2557del (p.Glu851fs)
NM_001322934.2(NFKB2):c.2557_2562del (p.Arg853_Asp854del) rs1192001551
NM_001322934.2(NFKB2):c.2560_2561dup (p.Asp854fs)
NM_001322934.2(NFKB2):c.256G>A (p.Glu86Lys)
NM_001322934.2(NFKB2):c.2578+1del rs2135443063
NM_001322934.2(NFKB2):c.2578+2_2578+4del
NM_001322934.2(NFKB2):c.2584G>C (p.Val862Leu)
NM_001322934.2(NFKB2):c.2596A>G (p.Ser866Gly)
NM_001322934.2(NFKB2):c.2596_2597del (p.Ser866fs)
NM_001322934.2(NFKB2):c.2597G>A (p.Ser866Asn) rs1565215008
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.2603A>G (p.Tyr868Cys)
NM_001322934.2(NFKB2):c.2635A>C (p.Lys879Gln)
NM_001322934.2(NFKB2):c.2642G>A (p.Gly881Asp) rs1224394326
NM_001322934.2(NFKB2):c.2657C>A (p.Pro886Gln) rs2135443850
NM_001322934.2(NFKB2):c.2674C>T (p.His892Tyr) rs2135443894
NM_001322934.2(NFKB2):c.2677G>A (p.Gly893Arg)
NM_001322934.2(NFKB2):c.2693A>G (p.Gln898Arg)
NM_001322934.2(NFKB2):c.28G>A (p.Asp10Asn)
NM_001322934.2(NFKB2):c.292C>A (p.His98Asn) rs1589859604
NM_001322934.2(NFKB2):c.295A>T (p.Ser99Cys) rs2135429749
NM_001322934.2(NFKB2):c.29A>G (p.Asp10Gly)
NM_001322934.2(NFKB2):c.307C>T (p.Arg103Cys)
NM_001322934.2(NFKB2):c.344C>T (p.Ser115Leu)
NM_001322934.2(NFKB2):c.361G>A (p.Ala121Thr)
NM_001322934.2(NFKB2):c.364G>A (p.Val122Ile)
NM_001322934.2(NFKB2):c.438G>A (p.Met146Ile) rs377480135
NM_001322934.2(NFKB2):c.479G>A (p.Arg160His)
NM_001322934.2(NFKB2):c.482C>T (p.Ser161Phe)
NM_001322934.2(NFKB2):c.48T>G (p.Asp16Glu)
NM_001322934.2(NFKB2):c.4G>A (p.Glu2Lys) rs2061101667
NM_001322934.2(NFKB2):c.501G>A (p.Thr167=) rs45586935
NM_001322934.2(NFKB2):c.503-16T>G
NM_001322934.2(NFKB2):c.538G>A (p.Glu180Lys)
NM_001322934.2(NFKB2):c.565A>G (p.Ile189Val)
NM_001322934.2(NFKB2):c.662-7T>G
NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg) rs2061147566
NM_001322934.2(NFKB2):c.673dup (p.Ala225fs) rs2061147687
NM_001322934.2(NFKB2):c.710C>T (p.Ala237Val)
NM_001322934.2(NFKB2):c.719_720del (p.Val240fs)
NM_001322934.2(NFKB2):c.742C>G (p.Leu248Val) rs2061148628
NM_001322934.2(NFKB2):c.766+1G>A rs2061148748
NM_001322934.2(NFKB2):c.85G>C (p.Glu29Gln) rs2061112300
NM_001322934.2(NFKB2):c.888G>C (p.Lys296Asn)
NM_001322934.2(NFKB2):c.892A>T (p.Lys298Ter) rs2061155044
NM_001322934.2(NFKB2):c.902G>A (p.Arg301Gln)
NM_001322934.2(NFKB2):c.991+4G>A
NM_001322934.2(NFKB2):c.991+5A>G rs2061156558
NM_001322934.2(NFKB2):c.991+6G>A
NM_001322934.2(NFKB2):c.992-3del rs1589863240

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