ClinVar Miner

List of variants studied for immunodeficiency 35 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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
NM_003331.5(TYK2):c.2466+1G>T

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