ClinVar Miner

List of variants studied for Immunodeficiency 35 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_003331.5(TYK2):c.2602C>T (p.Arg868Trp) rs762311335 0.00001
NM_003331.5(TYK2):c.193+1G>A rs2512401555
NM_003331.5(TYK2):c.2466+1G>T rs2512493826

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