ClinVar Miner

List of variants reported as pathogenic for X-linked agammaglobulinemia with growth hormone deficiency by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)	rs128621197
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)	rs128621203
NM_000061.3(BTK):c.1750+5G>A	rs864321659

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