ClinVar Miner

List of variants in gene HPS6 reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala) rs144257610 0.00019
NM_024747.6(HPS6):c.1255G>A (p.Ala419Thr) rs763676668
NM_024747.6(HPS6):c.369C>G (p.Gly123=) rs1554903545

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