ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (2):

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Total variants: 4

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HGVS	dbSNP
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)	rs2296434
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)	rs2296436
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	rs139061260
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)	rs11592273

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