ClinVar Miner

List of variants studied for Reticular dysgenesis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.524G>C (p.Arg175Pro) rs1243124080
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001625.4(AK2):c.79G>C (p.Gly27Arg) rs1310763684

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