ClinVar Miner

List of variants studied for functional neutrophil defect by Mendelics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774 0.00012
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001

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