ClinVar Miner

List of variants in gene HPS6 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 10
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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.1779G>A (p.Pro593=) rs77529785 0.00228
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_024747.6(HPS6):c.510C>T (p.Pro170=) rs376690720 0.00008
NM_024747.6(HPS6):c.1152T>C (p.Phe384=) rs200681093 0.00006
NM_024747.6(HPS6):c.1371C>T (p.Thr457=) rs751167149 0.00001
NM_024747.6(HPS6):c.1524C>T (p.Thr508=) rs755147148 0.00001
NM_024747.6(HPS6):c.567T>G (p.Pro189=) rs1015249401 0.00001
NM_024747.6(HPS6):c.1755G>A (p.Glu585=)
NM_024747.6(HPS6):c.838C>T (p.Leu280=)

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