List of variants in gene combination CP, HPS3 reported as likely benign for disorder of metabolite absorption and transport

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.*172G>A	rs34511277	0.11504
NM_032383.5(HPS3):c.*128A>G	rs73019023	0.11195
NM_000096.4(CP):c.2991T>C (p.His997=)	rs34394958	0.03059
NM_000096.4(CP):c.*1157C>T	rs11537809	0.02347
NM_000096.4(CP):c.*137C>T	rs34228141	0.02012
NM_000096.4(CP):c.*768T>C	rs35805816	0.01348
NM_000096.4(CP):c.*879A>C	rs144029944	0.00821
NM_000096.4(CP):c.3182-4A>G	rs34272112	0.00805
NM_000096.4(CP):c.*259C>T	rs192321084	0.00383
NM_000096.4(CP):c.3183C>T (p.Asp1061=)	rs184845153	0.00006
NM_000096.4(CP):c.3186C>A (p.Thr1062=)	rs1223476535	0.00001
NM_000096.4(CP):c.3186C>T (p.Thr1062=)

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