ClinVar Miner

List of variants studied for X-linked agammaglobulinemia with growth hormone deficiency by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=) rs1135363 0.37760
NM_000061.3(BTK):c.*116A>C rs700 0.35507
NM_000061.3(BTK):c.776+78G>A rs2855259 0.16810
NM_000061.3(BTK):c.1631+71C>T rs2071223

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