ClinVar Miner

List of variants studied for phagocytic cell dysfunction by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000265.7(NCF1):c.124C>T (p.Arg42Trp) rs782800778 0.00007
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001

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