ClinVar Miner

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

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_005356.5(LCK):c.851C>G (p.Ala284Gly) rs142611772 0.00020
NM_005356.5(LCK):c.1292C>T (p.Thr431Met) rs1801124 0.00010
NM_005356.5(LCK):c.631+3G>A rs373470036 0.00005
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.444C>A (p.His148Gln) rs763681220 0.00004
NM_005356.5(LCK):c.632A>T (p.Asn211Ile) rs766580359 0.00004
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.1190G>C (p.Arg397Thr) rs146452317 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.1016A>G (p.Asn339Ser) rs1258114778 0.00001
NM_005356.5(LCK):c.119A>G (p.Asn40Ser) rs752991931 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.355G>T (p.Ala119Ser) rs1441550050 0.00001
NM_005356.5(LCK):c.440C>G (p.Thr147Ser) rs761327722 0.00001
NM_005356.5(LCK):c.551G>A (p.Arg184His) rs777578035 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.104C>T (p.Thr35Met) rs1640192230
NM_005356.5(LCK):c.1064T>C (p.Ile355Thr) rs1640396798
NM_005356.5(LCK):c.1195+5G>A
NM_005356.5(LCK):c.1219A>G (p.Thr407Ala) rs2124369330
NM_005356.5(LCK):c.1240T>C (p.Tyr414His)
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.1356C>A (p.Asn452Lys)
NM_005356.5(LCK):c.1357C>G (p.Leu453Val) rs200540406
NM_005356.5(LCK):c.1373G>T (p.Arg458Leu) rs1405031975
NM_005356.5(LCK):c.142C>G (p.Leu48Val)
NM_005356.5(LCK):c.1501A>C (p.Thr501Pro) rs1640594194
NM_005356.5(LCK):c.1510C>A (p.Gln504Lys)
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.187G>A (p.Asp63Asn)
NM_005356.5(LCK):c.214T>C (p.Tyr72His) rs1393997550
NM_005356.5(LCK):c.238C>G (p.Leu80Val)
NM_005356.5(LCK):c.244T>C (p.Phe82Leu)
NM_005356.5(LCK):c.265C>G (p.Arg89Gly)
NM_005356.5(LCK):c.270C>G (p.Ile90Met) rs1640215337
NM_005356.5(LCK):c.283G>C (p.Gly95Arg) rs377653414
NM_005356.5(LCK):c.30A>T (p.Glu10Asp) rs2124350577
NM_005356.5(LCK):c.326G>T (p.Gly109Val) rs2124353988
NM_005356.5(LCK):c.356C>A (p.Ala119Glu)
NM_005356.5(LCK):c.376C>A (p.Pro126Thr)
NM_005356.5(LCK):c.391A>G (p.Asn131Asp)
NM_005356.5(LCK):c.395T>G (p.Leu132Arg)
NM_005356.5(LCK):c.437A>G (p.Asn146Ser) rs1640239109
NM_005356.5(LCK):c.49A>G (p.Ile17Val) rs1422197069
NM_005356.5(LCK):c.518A>G (p.Asn173Ser)
NM_005356.5(LCK):c.523G>A (p.Gly175Arg) rs1640253963
NM_005356.5(LCK):c.587G>A (p.Arg196Gln) rs1640256111
NM_005356.5(LCK):c.587G>C (p.Arg196Pro)
NM_005356.5(LCK):c.653C>T (p.Thr218Ile) rs1480132008
NM_005356.5(LCK):c.655C>G (p.Arg219Gly)
NM_005356.5(LCK):c.656G>A (p.Arg219Gln)
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.725G>A (p.Arg242Lys)
NM_005356.5(LCK):c.785G>C (p.Gly262Ala) rs2124359006
NM_005356.5(LCK):c.788A>T (p.Tyr263Phe)
NM_005356.5(LCK):c.797G>A (p.Gly266Glu)
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.853T>C (p.Phe285Leu)
NM_005356.5(LCK):c.895C>T (p.Arg299Trp) rs1156541922

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