ClinVar Miner

List of variants reported as uncertain significance for B-cell immunodeficiency, distal limb anomalies, and urogenital malformations by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)	rs1271271402
NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)	rs2529878550

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