List of variants in gene HPS6, LOC130004578 studied for Hermansky-Pudlak syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.155del (p.Val52fs)	rs1590262450
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)	rs2136333814
NM_024747.6(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs)	rs1564899012
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)	rs752399257

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