ClinVar Miner

List of variants in gene combination CP, HPS3 reported as uncertain significance by GeneDx

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe)	rs371304067	0.00004
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)	rs917888974

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