ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 1 by Revvity Omics, Revvity

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu)	rs142934882	0.00068
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)	rs145042327	0.00065
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)

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