ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to LCK deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_005356.5(LCK):c.378-11G>T rs11576030 0.01729
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108 0.01058
NM_005356.5(LCK):c.888A>G (p.Gln296=) rs35029770 0.00693
NM_005356.5(LCK):c.161C>G (p.Ser54Cys) rs147431889 0.00379
NM_005356.5(LCK):c.281G>A (p.Ser94Asn) rs142674647 0.00179
NM_005356.5(LCK):c.1195+4C>T rs142706318 0.00134
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841 0.00121
NM_005356.5(LCK):c.528G>A (p.Glu176=) rs139568272 0.00036
NM_005356.5(LCK):c.279-16C>T rs554553133 0.00020
NM_005356.5(LCK):c.851C>G (p.Ala284Gly) rs142611772 0.00020
NM_005356.5(LCK):c.408C>T (p.Asp136=) rs774750034 0.00016
NM_005356.5(LCK):c.600C>T (p.Pro200=) rs41264005 0.00014
NM_005356.5(LCK):c.351C>T (p.Ala117=) rs201521084 0.00012
NM_005356.5(LCK):c.141A>G (p.Pro47=) rs745339412 0.00011
NM_005356.5(LCK):c.1292C>T (p.Thr431Met) rs1801124 0.00010
NM_005356.5(LCK):c.612A>G (p.Glu204=) rs369593995 0.00010
NM_005356.5(LCK):c.360C>T (p.Asn120=) rs745802797 0.00009
NM_005356.5(LCK):c.481+7G>A rs1270606553 0.00009
NM_005356.5(LCK):c.84C>T (p.Val28=) rs144437329 0.00006
NM_005356.5(LCK):c.631+3G>A rs373470036 0.00005
NM_005356.5(LCK):c.785-5C>T rs746656319 0.00005
NM_005356.5(LCK):c.964+17T>A rs1052646904 0.00005
NM_005356.5(LCK):c.1290G>A (p.Leu430=) rs371007675 0.00004
NM_005356.5(LCK):c.1328-4G>A rs950290889 0.00004
NM_005356.5(LCK):c.1341G>A (p.Pro447=) rs777215464 0.00004
NM_005356.5(LCK):c.1382G>A (p.Arg461His) rs763148386 0.00004
NM_005356.5(LCK):c.1405C>A (p.Leu469Met) rs767828400 0.00004
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756 0.00004
NM_005356.5(LCK):c.444C>A (p.His148Gln) rs763681220 0.00004
NM_005356.5(LCK):c.632A>T (p.Asn211Ile) rs766580359 0.00004
NM_005356.5(LCK):c.1308C>T (p.His436=) rs201599151 0.00003
NM_005356.5(LCK):c.160T>G (p.Ser54Ala) rs540222297 0.00003
NM_005356.5(LCK):c.560A>G (p.Asp187Gly) rs767406314 0.00003
NM_005356.5(LCK):c.632-5C>T rs561082283 0.00003
NM_005356.5(LCK):c.1134C>T (p.Cys378=) rs756217211 0.00002
NM_005356.5(LCK):c.1153C>T (p.Leu385=) rs145374851 0.00002
NM_005356.5(LCK):c.1190G>C (p.Arg397Thr) rs146452317 0.00002
NM_005356.5(LCK):c.1449C>T (p.Asp483=) rs542519367 0.00002
NM_005356.5(LCK):c.504G>A (p.Arg168=) rs764228746 0.00002
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346 0.00002
NM_005356.5(LCK):c.834C>T (p.Gly278=) rs767538878 0.00002
NM_005356.5(LCK):c.912C>T (p.Tyr304=) rs550191357 0.00002
NM_005356.5(LCK):c.1016A>G (p.Asn339Ser) rs1258114778 0.00001
NM_005356.5(LCK):c.1113G>C (p.Leu371=) rs899084689 0.00001
NM_005356.5(LCK):c.119A>G (p.Asn40Ser) rs752991931 0.00001
NM_005356.5(LCK):c.1293G>A (p.Thr431=) rs375815167 0.00001
NM_005356.5(LCK):c.1302C>T (p.Val434=) rs188058742 0.00001
NM_005356.5(LCK):c.1328-14C>T rs1478480507 0.00001
NM_005356.5(LCK):c.1398A>G (p.Pro466=) rs759885748 0.00001
NM_005356.5(LCK):c.1464C>T (p.Asp488=) rs1223366825 0.00001
NM_005356.5(LCK):c.1512G>A (p.Gln504=) rs776741414 0.00001
NM_005356.5(LCK):c.153C>T (p.Tyr51=) rs950834998 0.00001
NM_005356.5(LCK):c.173C>T (p.Ala58Val) rs568140101 0.00001
NM_005356.5(LCK):c.252G>T (p.Lys84Asn) rs1444115742 0.00001
NM_005356.5(LCK):c.253G>C (p.Gly85Arg) rs1038465388 0.00001
NM_005356.5(LCK):c.343T>C (p.Phe115Leu) rs1429066934 0.00001
NM_005356.5(LCK):c.348G>T (p.Val116=) rs777531211 0.00001
NM_005356.5(LCK):c.355G>T (p.Ala119Ser) rs1441550050 0.00001
NM_005356.5(LCK):c.377+20G>A rs1417648815 0.00001
NM_005356.5(LCK):c.378-10C>T rs775454062 0.00001
NM_005356.5(LCK):c.423C>G (p.Leu141=) rs775789532 0.00001
NM_005356.5(LCK):c.440C>G (p.Thr147Ser) rs761327722 0.00001
NM_005356.5(LCK):c.482-6A>T rs550203611 0.00001
NM_005356.5(LCK):c.551G>A (p.Arg184His) rs777578035 0.00001
NM_005356.5(LCK):c.624T>C (p.His208=) rs1381064871 0.00001
NM_005356.5(LCK):c.675G>A (p.Gln225=) rs756730214 0.00001
NM_005356.5(LCK):c.784+10G>A rs761715331 0.00001
NM_005356.5(LCK):c.785-20C>T rs757937599 0.00001
NM_005356.5(LCK):c.849C>T (p.Asp283=) rs760860694 0.00001
NM_005356.5(LCK):c.896G>A (p.Arg299Gln) rs750936420 0.00001
NM_005356.5(LCK):c.90G>A (p.Leu30=) rs747453202 0.00001
NM_005356.5(LCK):c.963T>C (p.Asn321=) rs1388701655 0.00001
NM_005356.5(LCK):c.100G>C (p.Gly34Arg)
NM_005356.5(LCK):c.1014C>G (p.Ile338Met)
NM_005356.5(LCK):c.1029C>T (p.Asp343=) rs1569966567
NM_005356.5(LCK):c.1041+17G>A
NM_005356.5(LCK):c.1041+18G>C
NM_005356.5(LCK):c.1042-15G>C
NM_005356.5(LCK):c.1042-18T>C
NM_005356.5(LCK):c.1047A>T (p.Ala349=) rs1640395719
NM_005356.5(LCK):c.104C>T (p.Thr35Met) rs1640192230
NM_005356.5(LCK):c.105+10G>A
NM_005356.5(LCK):c.105+11A>G
NM_005356.5(LCK):c.105+19G>A
NM_005356.5(LCK):c.106-14C>A rs898277546
NM_005356.5(LCK):c.1064T>C (p.Ile355Thr) rs1640396798
NM_005356.5(LCK):c.1065T>C (p.Ile355=)
NM_005356.5(LCK):c.1072C>A (p.Arg358=)
NM_005356.5(LCK):c.1080T>C (p.Tyr360=) rs1379700432
NM_005356.5(LCK):c.1126del (p.Thr375_Leu376insTer)
NM_005356.5(LCK):c.1128G>A (p.Leu376=)
NM_005356.5(LCK):c.1140T>C (p.Ile380=)
NM_005356.5(LCK):c.115C>T (p.Arg39Ter)
NM_005356.5(LCK):c.1161C>A (p.Arg387=) rs2124368892
NM_005356.5(LCK):c.1164C>T (p.Leu388=)
NM_005356.5(LCK):c.1179G>A (p.Glu393=)
NM_005356.5(LCK):c.1195+14T>A
NM_005356.5(LCK):c.1195+5G>A
NM_005356.5(LCK):c.1196-11C>T
NM_005356.5(LCK):c.1196-8C>G
NM_005356.5(LCK):c.1196-9C>T
NM_005356.5(LCK):c.1201A>T (p.Lys401Ter) rs1640406042
NM_005356.5(LCK):c.1219A>G (p.Thr407Ala) rs2124369330
NM_005356.5(LCK):c.1224G>A (p.Ala408=)
NM_005356.5(LCK):c.1240T>C (p.Tyr414His)
NM_005356.5(LCK):c.1242C>T (p.Tyr414=)
NM_005356.5(LCK):c.1245G>C (p.Gly415=)
NM_005356.5(LCK):c.1269G>A (p.Val423=)
NM_005356.5(LCK):c.1300G>T (p.Val434Phe) rs758824898
NM_005356.5(LCK):c.1313G>A (p.Arg438His)
NM_005356.5(LCK):c.1326A>C (p.Pro442=)
NM_005356.5(LCK):c.1327+12G>A
NM_005356.5(LCK):c.1328-10C>A rs1328956722
NM_005356.5(LCK):c.1328-16_1328-15delinsGA rs2124383765
NM_005356.5(LCK):c.1328-19_1328-17del rs1197177836
NM_005356.5(LCK):c.1328-7C>T rs577301476
NM_005356.5(LCK):c.1344G>A (p.Glu448=)
NM_005356.5(LCK):c.1353G>A (p.Gln451=)
NM_005356.5(LCK):c.1356C>A (p.Asn452Lys)
NM_005356.5(LCK):c.1356C>T (p.Asn452=)
NM_005356.5(LCK):c.1357C>G (p.Leu453Val) rs200540406
NM_005356.5(LCK):c.1362G>A (p.Glu454=)
NM_005356.5(LCK):c.1373G>T (p.Arg458Leu) rs1405031975
NM_005356.5(LCK):c.1380G>A (p.Val460=)
NM_005356.5(LCK):c.142C>G (p.Leu48Val)
NM_005356.5(LCK):c.1440C>T (p.Arg480=) rs2124384093
NM_005356.5(LCK):c.1452G>C (p.Arg484=) rs1640592509
NM_005356.5(LCK):c.1458C>A (p.Thr486=) rs1250759441
NM_005356.5(LCK):c.1476T>C (p.Ser492=)
NM_005356.5(LCK):c.1485G>A (p.Glu495=) rs1640593891
NM_005356.5(LCK):c.1501A>C (p.Thr501Pro) rs1640594194
NM_005356.5(LCK):c.1510C>A (p.Gln504Lys)
NM_005356.5(LCK):c.1527TTGAGAGGCC[3] (p.Gln508_Ter510=) rs768820203
NM_005356.5(LCK):c.1527_*6TTGAGAGGCC[1] (p.Pro509_Ter(510_?)(?))
NM_005356.5(LCK):c.154G>C (p.Glu52Gln)
NM_005356.5(LCK):c.15C>G (p.Cys5Trp) rs1486428010
NM_005356.5(LCK):c.15C>T (p.Cys5=)
NM_005356.5(LCK):c.171G>A (p.Pro57=) rs528967735
NM_005356.5(LCK):c.187G>A (p.Asp63Asn)
NM_005356.5(LCK):c.188-17G>T
NM_005356.5(LCK):c.188-8del
NM_005356.5(LCK):c.192C>T (p.Asn64=)
NM_005356.5(LCK):c.214T>C (p.Tyr72His) rs1393997550
NM_005356.5(LCK):c.222C>T (p.Pro74=) rs768627081
NM_005356.5(LCK):c.238C>G (p.Leu80Val)
NM_005356.5(LCK):c.244T>C (p.Phe82Leu)
NM_005356.5(LCK):c.255G>C (p.Gly85=)
NM_005356.5(LCK):c.265C>G (p.Arg89Gly)
NM_005356.5(LCK):c.270C>G (p.Ile90Met) rs1640215337
NM_005356.5(LCK):c.279-4G>T rs375477745
NM_005356.5(LCK):c.279-8T>C
NM_005356.5(LCK):c.283G>C (p.Gly95Arg) rs377653414
NM_005356.5(LCK):c.297G>A (p.Lys99=) rs2124353891
NM_005356.5(LCK):c.306C>T (p.Ser102=)
NM_005356.5(LCK):c.30A>T (p.Glu10Asp) rs2124350577
NM_005356.5(LCK):c.318C>T (p.Gly106=) rs1640227427
NM_005356.5(LCK):c.326G>T (p.Gly109Val) rs2124353988
NM_005356.5(LCK):c.333C>T (p.Ile111=) rs942638932
NM_005356.5(LCK):c.356C>A (p.Ala119Glu)
NM_005356.5(LCK):c.357G>C (p.Ala119=) rs778915733
NM_005356.5(LCK):c.376C>A (p.Pro126Thr)
NM_005356.5(LCK):c.377+13C>T
NM_005356.5(LCK):c.377+18G>T rs372533013
NM_005356.5(LCK):c.377+20G>T
NM_005356.5(LCK):c.378-12C>T
NM_005356.5(LCK):c.378-17G>A
NM_005356.5(LCK):c.378-17G>T
NM_005356.5(LCK):c.378-18C>G rs1475347578
NM_005356.5(LCK):c.378-7T>C
NM_005356.5(LCK):c.391A>G (p.Asn131Asp)
NM_005356.5(LCK):c.395T>G (p.Leu132Arg)
NM_005356.5(LCK):c.415del (p.Arg139fs) rs1640237880
NM_005356.5(LCK):c.437A>G (p.Asn146Ser) rs1640239109
NM_005356.5(LCK):c.474C>T (p.Ser158=) rs1569954423
NM_005356.5(LCK):c.477del (p.Ala160fs) rs2124355238
NM_005356.5(LCK):c.481+11G>A rs1213589823
NM_005356.5(LCK):c.481+14G>T
NM_005356.5(LCK):c.481+20G>C
NM_005356.5(LCK):c.481+2T>G
NM_005356.5(LCK):c.482-7C>T rs2124356368
NM_005356.5(LCK):c.486G>A (p.Ser162=)
NM_005356.5(LCK):c.49A>G (p.Ile17Val) rs1422197069
NM_005356.5(LCK):c.510C>T (p.Phe170=) rs1396562316
NM_005356.5(LCK):c.518A>G (p.Asn173Ser)
NM_005356.5(LCK):c.523G>A (p.Gly175Arg) rs1640253963
NM_005356.5(LCK):c.564C>T (p.Asn188=) rs1640255553
NM_005356.5(LCK):c.587G>A (p.Arg196Gln) rs1640256111
NM_005356.5(LCK):c.587G>C (p.Arg196Pro)
NM_005356.5(LCK):c.609T>C (p.His203=) rs2124356863
NM_005356.5(LCK):c.631+8C>G rs769182927
NM_005356.5(LCK):c.632-14C>T
NM_005356.5(LCK):c.653C>T (p.Thr218Ile) rs1480132008
NM_005356.5(LCK):c.654A>T (p.Thr218=)
NM_005356.5(LCK):c.655C>G (p.Arg219Gly)
NM_005356.5(LCK):c.656G>A (p.Arg219Gln)
NM_005356.5(LCK):c.663C>T (p.Ser221=)
NM_005356.5(LCK):c.665G>A (p.Arg222His) rs749760246
NM_005356.5(LCK):c.695C>T (p.Pro232Leu) rs1640272054
NM_005356.5(LCK):c.696G>A (p.Pro232=)
NM_005356.5(LCK):c.696G>C (p.Pro232=)
NM_005356.5(LCK):c.725G>A (p.Arg242Lys)
NM_005356.5(LCK):c.751C>T (p.Leu251=)
NM_005356.5(LCK):c.753G>A (p.Leu251=)
NM_005356.5(LCK):c.771G>C (p.Gly257=)
NM_005356.5(LCK):c.784+18G>C rs2124358517
NM_005356.5(LCK):c.784+7_784+8insGGAGTTTCCCAGGGAGACGCTGAAGCTGGTGGAGCGGCTGGGGGCTGGACAGTTCGGGGAGGTGTGGATGGGTGAGTG rs1557585570
NM_005356.5(LCK):c.785-7G>A rs779692471
NM_005356.5(LCK):c.785G>C (p.Gly262Ala) rs2124359006
NM_005356.5(LCK):c.788A>T (p.Tyr263Phe)
NM_005356.5(LCK):c.795C>T (p.Asn265=)
NM_005356.5(LCK):c.797G>A (p.Gly266Glu)
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.813G>A (p.Ala271=) rs748088071
NM_005356.5(LCK):c.84C>A (p.Val28=) rs144437329
NM_005356.5(LCK):c.853T>C (p.Phe285Leu)
NM_005356.5(LCK):c.885G>C (p.Leu295=)
NM_005356.5(LCK):c.88C>T (p.Leu30=)
NM_005356.5(LCK):c.895C>T (p.Arg299Trp) rs1156541922
NM_005356.5(LCK):c.898C>T (p.Leu300=)
NM_005356.5(LCK):c.933C>A (p.Pro311=)
NM_005356.5(LCK):c.942C>T (p.Ile314=) rs1569958925
NM_005356.5(LCK):c.964+11C>A
NM_005356.5(LCK):c.964+13C>G
NM_005356.5(LCK):c.965-9T>C rs748428158
NM_005356.5(LCK):c.984C>T (p.Leu328=)
NM_005356.5(LCK):c.99G>A (p.Lys33=) rs1029313140

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