ClinVar Miner

List of variants in gene CYBB reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449

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