ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*96TC[3] rs1553756780 0.00063
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) rs776346762 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97CA[16] rs113015797
NM_032383.5(HPS3):c.*97CA[17] rs113015797
NM_032383.5(HPS3):c.*97CA[20] rs113015797
NM_032383.5(HPS3):c.*97CA[21] rs113015797
NM_032383.5(HPS3):c.*97CA[22] rs113015797
NM_032383.5(HPS3):c.*97CA[23] rs113015797
NM_032383.5(HPS3):c.*97CA[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.2370C>G (p.Leu790=) rs746304657
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) rs1724018415
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) rs1206629874
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164

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