ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg) rs772897521
NM_024747.5(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.5(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.5(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.5(HPS6):c.706_707delTC rs756471925
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu) rs1478574193
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364

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