ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency due to IKK2 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_001556.3(IKBKB):c.318+6G>T rs17875678 0.00029
NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met) rs200738579 0.00025
NM_001556.3(IKBKB):c.938A>G (p.His313Arg) rs141351312 0.00013
NM_001556.3(IKBKB):c.2231C>T (p.Thr744Met) rs138183879 0.00009
NM_001556.3(IKBKB):c.2185G>C (p.Glu729Gln) rs200867144 0.00008
NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser) rs201211235 0.00008
NM_001556.3(IKBKB):c.1364+6G>A rs199631744 0.00007
NM_001556.3(IKBKB):c.650C>T (p.Thr217Met) rs201023733 0.00007
NM_001556.3(IKBKB):c.916A>G (p.Ile306Val) rs140200494 0.00007
NM_001556.3(IKBKB):c.1660C>T (p.Arg554Trp) rs17875749 0.00006
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln) rs200841053 0.00006
NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp) rs202136671 0.00005
NM_001556.3(IKBKB):c.1654A>G (p.Met552Val) rs200018957 0.00005
NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser) rs200288567 0.00005
NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) rs200485393 0.00004
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) rs753511458 0.00004
NM_001556.3(IKBKB):c.878C>T (p.Thr293Met) rs200322650 0.00004
NM_001556.3(IKBKB):c.1264G>A (p.Ala422Thr) rs781098452 0.00003
NM_001556.3(IKBKB):c.1884G>C (p.Lys628Asn) rs372663781 0.00003
NM_001556.3(IKBKB):c.1934G>A (p.Arg645Gln) rs146638252 0.00003
NM_001556.3(IKBKB):c.1996C>T (p.Arg666Cys) rs200511641 0.00003
NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe) rs1212103006 0.00003
NM_001556.3(IKBKB):c.2169A>G (p.Ile723Met) rs150441824 0.00003
NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln) rs139712776 0.00003
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro) rs200759910 0.00003
NM_001556.3(IKBKB):c.613T>C (p.Tyr205His) rs147591709 0.00003
NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) rs763596106 0.00002
NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) rs1286940689 0.00002
NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala) rs1182623073 0.00002
NM_001556.3(IKBKB):c.1736G>A (p.Arg579Gln) rs1220379326 0.00002
NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu) rs201869683 0.00002
NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser) rs763432993 0.00002
NM_001556.3(IKBKB):c.317A>G (p.Lys106Arg) rs755185347 0.00002
NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) rs749952717 0.00002
NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) rs201052871 0.00002
NM_001556.3(IKBKB):c.812A>C (p.Glu271Ala) rs953039928 0.00002
NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) rs200531993 0.00002
NM_001556.3(IKBKB):c.971C>T (p.Thr324Ile) rs754812986 0.00002
NM_001556.3(IKBKB):c.106-3T>C rs374850898 0.00001
NM_001556.3(IKBKB):c.1079C>T (p.Ala360Val) rs202120081 0.00001
NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val) rs1263837874 0.00001
NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn) rs760398648 0.00001
NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) rs56411242 0.00001
NM_001556.3(IKBKB):c.1121G>C (p.Gly374Ala) rs1434387039 0.00001
NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly) rs372924645 0.00001
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu) rs762361603 0.00001
NM_001556.3(IKBKB):c.1192G>A (p.Glu398Lys) rs199756216 0.00001
NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala) rs543940041 0.00001
NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) rs368737022 0.00001
NM_001556.3(IKBKB):c.1255A>G (p.Arg419Gly) rs896756037 0.00001
NM_001556.3(IKBKB):c.1357G>A (p.Ala453Thr) rs2487680882 0.00001
NM_001556.3(IKBKB):c.1364+5C>T rs752596848 0.00001
NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr) rs2487009451 0.00001
NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile) rs1248668668 0.00001
NM_001556.3(IKBKB):c.1439A>G (p.Lys480Arg) rs777177935 0.00001
NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu) rs201805807 0.00001
NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) rs1378740755 0.00001
NM_001556.3(IKBKB):c.1600G>A (p.Val534Ile) rs201840157 0.00001
NM_001556.3(IKBKB):c.1603G>C (p.Glu535Gln) rs1438637705 0.00001
NM_001556.3(IKBKB):c.1607G>A (p.Arg536Gln) rs111715123 0.00001
NM_001556.3(IKBKB):c.1627G>A (p.Asp543Asn) rs759234043 0.00001
NM_001556.3(IKBKB):c.1661G>A (p.Arg554Gln) rs751295594 0.00001
NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) rs754822259 0.00001
NM_001556.3(IKBKB):c.1690G>A (p.Glu564Lys) rs755214823 0.00001
NM_001556.3(IKBKB):c.1817G>A (p.Arg606Gln) rs776259486 0.00001
NM_001556.3(IKBKB):c.1819G>A (p.Val607Met) rs764627236 0.00001
NM_001556.3(IKBKB):c.1826A>G (p.Tyr609Cys) rs1446069169 0.00001
NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile) rs764317881 0.00001
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163 0.00001
NM_001556.3(IKBKB):c.1986T>C (p.Cys662=) rs1302408676 0.00001
NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu) rs1408354653 0.00001
NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) rs199897983 0.00001
NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr) rs200260868 0.00001
NM_001556.3(IKBKB):c.2115-3T>C rs943205824 0.00001
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) rs200136227 0.00001
NM_001556.3(IKBKB):c.341G>A (p.Cys114Tyr) rs1383844139 0.00001
NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn) rs1460784228 0.00001
NM_001556.3(IKBKB):c.382G>A (p.Asp128Asn) rs1813080383 0.00001
NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) rs1193171808 0.00001
NM_001556.3(IKBKB):c.707G>A (p.Arg236Gln) rs200571498 0.00001
NM_001556.3(IKBKB):c.739G>A (p.Glu247Lys) rs1289987110 0.00001
NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) rs1585747711 0.00001
NM_001556.3(IKBKB):c.869C>T (p.Thr290Met) rs201602866 0.00001
NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) rs1304501516 0.00001
NM_001556.3(IKBKB):c.940A>G (p.Ile314Val) rs201912118 0.00001
NM_001556.3(IKBKB):c.956C>T (p.Thr319Met) rs762966170 0.00001
NC_000008.10:g.(?_41518984)_(42698237_?)dup
NC_000008.10:g.(?_41905876)_(42188497_?)dup
NC_000008.10:g.(?_42128869)_(43054732_?)dup
NC_000008.10:g.(?_42129619)_(42188497_?)dup
NM_001556.3(IKBKB):c.1016G>C (p.Arg339Thr)
NM_001556.3(IKBKB):c.1027G>A (p.Asp343Asn)
NM_001556.3(IKBKB):c.1073G>A (p.Gly358Asp) rs2130638855
NM_001556.3(IKBKB):c.1086C>G (p.Ile362Met)
NM_001556.3(IKBKB):c.1117G>C (p.Asp373His) rs2130639266
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) rs758806135
NM_001556.3(IKBKB):c.1120G>C (p.Gly374Arg)
NM_001556.3(IKBKB):c.1124A>C (p.Lys375Thr) rs1585763391
NM_001556.3(IKBKB):c.1130A>G (p.Asn377Ser) rs910670966
NM_001556.3(IKBKB):c.1136G>T (p.Gly379Val) rs761487832
NM_001556.3(IKBKB):c.1170T>C (p.Phe390=) rs2487667912
NM_001556.3(IKBKB):c.1200G>C (p.Gln400His) rs2487668287
NM_001556.3(IKBKB):c.1205C>G (p.Ser402Cys) rs2487668358
NM_001556.3(IKBKB):c.1207C>T (p.Pro403Ser)
NM_001556.3(IKBKB):c.1211G>A (p.Arg404Gln)
NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn) rs1221917553
NM_001556.3(IKBKB):c.1240C>T (p.Leu414Phe) rs375520322
NM_001556.3(IKBKB):c.1244A>G (p.Gln415Arg) rs2487679224
NM_001556.3(IKBKB):c.1306A>G (p.Ser436Gly)
NM_001556.3(IKBKB):c.1351C>G (p.Gln451Glu)
NM_001556.3(IKBKB):c.1365-14T>C rs201330290
NM_001556.3(IKBKB):c.1404G>T (p.Met468Ile) rs2487692323
NM_001556.3(IKBKB):c.1412C>G (p.Ser471Cys) rs2487692468
NM_001556.3(IKBKB):c.1424T>C (p.Met475Thr) rs200031466
NM_001556.3(IKBKB):c.1451A>G (p.Asp484Gly) rs2130659705
NM_001556.3(IKBKB):c.1468A>G (p.Ile490Val) rs1819332008
NM_001556.3(IKBKB):c.1480C>A (p.Leu494Met) rs373147900
NM_001556.3(IKBKB):c.1495G>A (p.Glu499Lys) rs774429138
NM_001556.3(IKBKB):c.1517-3C>G rs1819383596
NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) rs1585781141
NM_001556.3(IKBKB):c.1550T>C (p.Met517Thr)
NM_001556.3(IKBKB):c.1553A>T (p.Glu518Val)
NM_001556.3(IKBKB):c.1557G>C (p.Gln519His) rs2487697466
NM_001556.3(IKBKB):c.1570T>C (p.Cys524Arg)
NM_001556.3(IKBKB):c.1578+11C>A rs2487698098
NM_001556.3(IKBKB):c.157C>T (p.Arg53Trp)
NM_001556.3(IKBKB):c.1606C>G (p.Arg536Gly)
NM_001556.3(IKBKB):c.1616C>G (p.Ala539Gly)
NM_001556.3(IKBKB):c.1623G>C (p.Gln541His)
NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys) rs1485660870
NM_001556.3(IKBKB):c.1637A>G (p.Asp546Gly) rs2130671505
NM_001556.3(IKBKB):c.1647G>T (p.Arg549Ser)
NM_001556.3(IKBKB):c.1655T>C (p.Met552Thr)
NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala) rs1326176524
NM_001556.3(IKBKB):c.1669G>C (p.Gly557Arg) rs149701177
NM_001556.3(IKBKB):c.1669G>T (p.Gly557Trp)
NM_001556.3(IKBKB):c.1673G>T (p.Gly558Val) rs1441651063
NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser) rs1182623073
NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro) rs1195581989
NM_001556.3(IKBKB):c.1688+5G>A rs2487715486
NM_001556.3(IKBKB):c.1699G>T (p.Ala567Ser)
NM_001556.3(IKBKB):c.1706A>G (p.Glu569Gly) rs1404740155
NM_001556.3(IKBKB):c.1714A>G (p.Arg572Gly) rs2487731630
NM_001556.3(IKBKB):c.1761T>G (p.Ser587Arg) rs2487734617
NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly) rs772006031
NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) rs1563364138
NM_001556.3(IKBKB):c.1816C>G (p.Arg606Gly) rs768351634
NM_001556.3(IKBKB):c.1832A>G (p.Gln611Arg) rs2487735616
NM_001556.3(IKBKB):c.1848G>A (p.Val616=) rs2487739458
NM_001556.3(IKBKB):c.1849G>A (p.Val617Ile) rs1156870690
NM_001556.3(IKBKB):c.1865C>T (p.Ala622Val)
NM_001556.3(IKBKB):c.1868T>C (p.Leu623Pro) rs2487739728
NM_001556.3(IKBKB):c.1916A>G (p.Asp639Gly) rs2487740353
NM_001556.3(IKBKB):c.1948C>T (p.Arg650Trp) rs2487740745
NM_001556.3(IKBKB):c.1986+7G>A
NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala) rs1820663869
NM_001556.3(IKBKB):c.2003C>T (p.Pro668Leu)
NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg) rs2487292120
NM_001556.3(IKBKB):c.2041C>T (p.Leu681Phe) rs2487778506
NM_001556.3(IKBKB):c.2074T>A (p.Ser692Thr) rs1197588215
NM_001556.3(IKBKB):c.2074T>G (p.Ser692Ala)
NM_001556.3(IKBKB):c.2083T>A (p.Ser695Thr) rs1820679317
NM_001556.3(IKBKB):c.2083T>C (p.Ser695Pro) rs1820679317
NM_001556.3(IKBKB):c.211C>T (p.Pro71Ser)
NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu) rs2487292229
NM_001556.3(IKBKB):c.2156T>C (p.Leu719Pro) rs2130735732
NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser) rs771764280
NM_001556.3(IKBKB):c.2180_2181del (p.Val727fs) rs2487810717
NM_001556.3(IKBKB):c.2185G>A (p.Glu729Lys) rs200867144
NM_001556.3(IKBKB):c.2188C>G (p.Gln730Glu) rs1821349130
NM_001556.3(IKBKB):c.2190A>C (p.Gln730His) rs773395600
NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) rs555312351
NM_001556.3(IKBKB):c.2205+6A>C
NM_001556.3(IKBKB):c.2220C>A (p.Ser740Arg) rs1441740528
NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup) rs1821622693
NM_001556.3(IKBKB):c.2235A>C (p.Glu745Asp)
NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) rs774937660
NM_001556.3(IKBKB):c.2260C>T (p.Gln754Ter) rs2487823921
NM_001556.3(IKBKB):c.2260_2262dup (p.Gln754_Ala755insGln) rs774003018
NM_001556.3(IKBKB):c.2263G>A (p.Ala755Thr) rs202054179
NM_001556.3(IKBKB):c.241G>C (p.Glu81Gln)
NM_001556.3(IKBKB):c.286A>G (p.Met96Val)
NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln) rs1446214032
NM_001556.3(IKBKB):c.329A>G (p.Gln110Arg)
NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile) rs1388981077
NM_001556.3(IKBKB):c.357A>T (p.Glu119Asp)
NM_001556.3(IKBKB):c.359G>A (p.Gly120Asp) rs758302357
NM_001556.3(IKBKB):c.366C>T (p.Ile122=) rs2487343763
NM_001556.3(IKBKB):c.385A>G (p.Ile129Val) rs1813081444
NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu) rs2487009900
NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg) rs1425985153
NM_001556.3(IKBKB):c.467G>C (p.Gly156Ala) rs2487503519
NM_001556.3(IKBKB):c.509C>T (p.Ala170Val) rs1554518965
NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys) rs2487520374
NM_001556.3(IKBKB):c.547G>A (p.Val183Met) rs2487520713
NM_001556.3(IKBKB):c.554C>A (p.Thr185Asn) rs2487520816
NM_001556.3(IKBKB):c.577C>G (p.Leu193Val) rs2130562887
NM_001556.3(IKBKB):c.59_60delinsTT (p.Arg20Leu)
NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys) rs368588487
NM_001556.3(IKBKB):c.692+5G>C rs2487553888
NM_001556.3(IKBKB):c.703G>A (p.Val235Met) rs2487617274
NM_001556.3(IKBKB):c.712A>C (p.Lys238Gln) rs2487617406
NM_001556.3(IKBKB):c.730G>A (p.Val244Ile) rs774103270
NM_001556.3(IKBKB):c.742G>C (p.Asp248His) rs2130616545
NM_001556.3(IKBKB):c.757G>C (p.Val253Leu) rs140074007
NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu) rs777275618
NM_001556.3(IKBKB):c.800+3A>G rs1324740567
NM_001556.3(IKBKB):c.800+5G>A
NM_001556.3(IKBKB):c.840G>T (p.Met280Ile) rs1818662984
NM_001556.3(IKBKB):c.854C>G (p.Pro285Arg) rs770202908
NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) rs759786790
NM_001556.3(IKBKB):c.905C>T (p.Ala302Val)
NM_001556.3(IKBKB):c.90C>G (p.Ile30Met) rs1807917822
NM_001556.3(IKBKB):c.950T>C (p.Met317Thr) rs1818752101

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