ClinVar Miner

List of variants in gene HPS1 reported as likely pathogenic for Hermansky-Pudlak syndrome 1

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Gene type:		Distinguish antisense genes from sense genes
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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.1632C>A (p.Phe544Leu)
NM_000195.5(HPS1):c.399-14G>A
NM_000195.5(HPS1):c.507+2T>G

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