ClinVar Miner

List of variants in gene combination CYBB, LOC130068093 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_37780009)_(37783620_?)del
NM_000397.4(CYBB):c.37_45+2del rs1556464116
NM_000397.4(CYBB):c.40del (p.Val14fs)
NM_000397.4(CYBB):c.45+1G>T
NM_000397.4(CYBB):c.45+2dup
NM_000397.4(CYBB):c.45+6T>C rs1569478551

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