List of variants in gene JAK3 reported as pathogenic for Severe combined immunodeficiency disease

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_000215.4(JAK3):c.1351C>T (p.Arg451Ter)	rs267605358	0.00001
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)

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