ClinVar Miner

List of variants in gene LCK studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_005356.5(LCK):c.1195+4C>T rs142706318
NM_005356.5(LCK):c.1328-7C>T rs577301476
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_005356.5(LCK):c.1382G>A (p.Arg461His)
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_005356.5(LCK):c.161C>G (p.Ser54Cys) rs147431889
NM_005356.5(LCK):c.171G>A (p.Pro57=) rs528967735
NM_005356.5(LCK):c.252G>T (p.Lys84Asn)
NM_005356.5(LCK):c.559G>A (p.Asp187Asn) rs539280346
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
NM_005356.5(LCK):c.632A>T (p.Asn211Ile)
NM_005356.5(LCK):c.803C>T (p.Thr268Met) rs1557585827
NM_005356.5(LCK):c.84C>T (p.Val28=) rs144437329
NM_005356.5(LCK):c.851C>G (p.Ala284Gly)
NM_005356.5(LCK):c.888A>G (p.Gln296=) rs35029770
NM_005356.5(LCK):c.896G>A (p.Arg299Gln)
NM_005356.5(LCK):c.90G>A (p.Leu30=)

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