ClinVar Miner

List of variants reported as likely pathogenic for T-B+ severe combined immunodeficiency due to JAK3 deficiency by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)	rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.2680+89G>A

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