ClinVar Miner

List of variants studied for combined immunodeficiency due to DOCK8 deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3043C>T (p.Arg1015Cys) rs369901029 0.00004
NM_203447.4(DOCK8):c.1797+1G>T
NM_203447.4(DOCK8):c.3175dup (p.Leu1059fs)
NM_203447.4(DOCK8):c.387G>C (p.Trp129Cys)
NM_203447.4:c.-469_156+28del

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