"3billion"[submitter] AND "JAK3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135549	NM_000215.4(JAK3):c.3207+73G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 36423	NM_000215.4(JAK3):c.678_679del (p.Cys227fs)	JAK3	Deletion (frameshift variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic FDA Recognized database