ClinVar Miner

List of variants in gene LCK reported as likely pathogenic for severe combined immunodeficiency due to LCK deficiency

Included ClinVar conditions (1):

Severe combined immunodeficiency due to LCK deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005356.5(LCK):c.1129dup (p.Ser377fs)	rs1569967422
NM_005356.5(LCK):c.1515C>A (p.Tyr505Ter)
NM_005356.5(LCK):c.481+2T>G

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