ClinVar Miner

List of variants reported as pathogenic for functional neutrophil defect by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (14):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_001098426.2(SMARCD2):c.1429C>T (p.Arg477Ter)	rs1567760022
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro)	rs587777534

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