ClinVar Miner

List of variants in gene LCK reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
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.279-16C>T rs554553133 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.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.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.1497G>A (p.Thr499=) rs375587756 0.00004
NM_005356.5(LCK):c.1308C>T (p.His436=) rs201599151 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.1449C>T (p.Asp483=) rs542519367 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.1113G>C (p.Leu371=) rs899084689 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.348G>T (p.Val116=) rs777531211 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.482-6A>T rs550203611 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.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.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.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.1128G>A (p.Leu376=)
NM_005356.5(LCK):c.1140T>C (p.Ile380=)
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.1196-11C>T
NM_005356.5(LCK):c.1196-8C>G
NM_005356.5(LCK):c.1196-9C>T
NM_005356.5(LCK):c.1224G>A (p.Ala408=)
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.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.1344G>A (p.Glu448=)
NM_005356.5(LCK):c.1353G>A (p.Gln451=)
NM_005356.5(LCK):c.1356C>T (p.Asn452=)
NM_005356.5(LCK):c.1362G>A (p.Glu454=)
NM_005356.5(LCK):c.1380G>A (p.Val460=)
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.1527TTGAGAGGCC[3] (p.Gln508_Ter510=) rs768820203
NM_005356.5(LCK):c.15C>T (p.Cys5=)
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.222C>T (p.Pro74=) rs768627081
NM_005356.5(LCK):c.255G>C (p.Gly85=)
NM_005356.5(LCK):c.279-4G>T rs375477745
NM_005356.5(LCK):c.279-8T>C
NM_005356.5(LCK):c.297G>A (p.Lys99=) rs2124353891
NM_005356.5(LCK):c.306C>T (p.Ser102=)
NM_005356.5(LCK):c.318C>T (p.Gly106=) rs1640227427
NM_005356.5(LCK):c.333C>T (p.Ile111=) rs942638932
NM_005356.5(LCK):c.357G>C (p.Ala119=) rs778915733
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.474C>T (p.Ser158=) rs1569954423
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.482-7C>T rs2124356368
NM_005356.5(LCK):c.486G>A (p.Ser162=)
NM_005356.5(LCK):c.510C>T (p.Phe170=) rs1396562316
NM_005356.5(LCK):c.564C>T (p.Asn188=) rs1640255553
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.654A>T (p.Thr218=)
NM_005356.5(LCK):c.663C>T (p.Ser221=)
NM_005356.5(LCK):c.696G>A (p.Pro232=)
NM_005356.5(LCK):c.696G>C (p.Pro232=)
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.795C>T (p.Asn265=)
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.885G>C (p.Leu295=)
NM_005356.5(LCK):c.88C>T (p.Leu30=)
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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