ClinVar Miner

List of variants reported as uncertain significance for phagocytic cell dysfunction by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00233
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00174
NM_000265.7(NCF1):c.108G>A (p.Ser36=) rs146173318 0.00031
NM_000397.4(CYBB):c.969A>G (p.Gln323=) rs144764222 0.00012
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000631.5(NCF4):c.619T>C (p.Trp207Arg) rs2517923367

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