ClinVar Miner

List of variants in gene CP, HPS3 studied for Hermansky-Pudlak syndrome

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Total variants: 22
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HGVS dbSNP
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*96_*97TC[3] rs1553756780
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97_*98CA[16] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[17] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[20] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[21] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[22] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[23] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.2887+19dup rs397710976

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