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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.3096+18A>G	rs2302603	0.36048
NM_000215.4(JAK3):c.1787-11dup	rs397839895	0.02943
NM_000215.4(JAK3):c.2259C>T (p.Ala753=)	rs35458530	0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=)	rs2230589	0.00942
NC_000019.10:g.17824778_17824779del	rs10580414
NC_000019.10:g.17824778_17824779insCA	rs10672762
NM_000215.4(JAK3):c.*222CT[1]	rs3212801
NM_000215.4(JAK3):c.308+16del	rs3212717

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