List of variants in gene JAK3 reported as uncertain significance 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.190C>T (p.Leu64=)	rs886054280	0.00001
NM_000215.4(JAK3):c.*1353dup	rs886054269
NM_000215.4(JAK3):c.*1931del	rs147498283
NM_000215.4(JAK3):c.*340dup	rs886054276
NM_000215.4(JAK3):c.841_842dup	rs34803277

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