List of variants in gene combination CP, HPS3 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2796+2T>A	rs1476066527	0.00001
NM_032383.5(HPS3):c.2797-1G>A	rs1280253490	0.00001
NC_000003.11:g.(?_148888289)_(148904456_?)del
NC_000003.12:g.(?_149139994)_(149172232_?)del
NM_032383.5(HPS3):c.2293-1G>A	rs2108170158
NM_032383.5(HPS3):c.2293-5_2299del	rs2473123528
NM_032383.5(HPS3):c.2481+1G>A	rs2473124798
NM_032383.5(HPS3):c.2590-2A>T	rs1288851720

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