List of variants in gene CP, HPS3 studied for aceruloplasminemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.*769G>A	rs1053669	0.19723
NM_032383.5(HPS3):c.*172G>A	rs34511277	0.11672
NM_032383.5(HPS3):c.*128A>G	rs73019023	0.11195
NM_000096.4(CP):c.2991T>C (p.His997=)	rs34394958	0.03057
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.*509A>C	rs13098532	0.00867
NM_000096.4(CP):c.*879A>C	rs144029944	0.00863
NM_000096.4(CP):c.3182-4A>G	rs34272112	0.00805
NM_000096.4(CP):c.*474T>C	rs34936395	0.00559
NM_000096.4(CP):c.*259C>T	rs192321084	0.00414
NM_000096.4(CP):c.*1081T>A	rs188137938	0.00174
NM_000096.4(CP):c.*40C>T	rs112764171	0.00162
NM_000096.4(CP):c.*373C>G	rs370247691	0.00029
NM_000096.4(CP):c.*572A>G	rs561191589	0.00011
NM_000096.4(CP):c.3183C>T (p.Asp1061=)	rs184845153	0.00006
NM_000096.4(CP):c.*912C>G	rs149920453	0.00005
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)	rs749381794	0.00002
NM_000096.4(CP):c.*343A>G	rs886058085	0.00001
NC_000003.11:g.(?_148847511)_(148906009_?)dup
NM_000096.4(CP):c.*1007T>A	rs36120450
NM_000096.4(CP):c.*373C>T	rs370247691
NM_000096.4(CP):c.*536G>C	rs1725167347
NM_000096.4(CP):c.*583T>C	rs886058084
NM_000096.4(CP):c.*828dup	rs35907111
NM_000096.4(CP):c.3186C>A (p.Thr1062=)
NM_032383.5(HPS3):c.2887+19dup	rs397710976

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