ClinVar Miner

List of variants in gene HPS6 studied for Hermansky-Pudlak syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364 0.00002
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.706_707del (p.Ser236fs) rs756471925
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244

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