List of variants in gene HPS1 reported as pathogenic for Hermansky-Pudlak syndrome

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082

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