ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely pathogenic for Hermansky-Pudlak syndrome 3

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 1

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HGVS	dbSNP
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs)	rs1277509410

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