ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely pathogenic for Hermansky-Pudlak syndrome 3

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00002
NM_032383.5(HPS3):c.2318del (p.Thr773fs) rs866769733 0.00001
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter) rs575323437 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs) rs2473124046
NM_032383.5(HPS3):c.2380del (p.Val794fs) rs2473124121
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer) rs2473124437
NM_032383.5(HPS3):c.2425A>T (p.Arg809Ter)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter) rs2473124553
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs) rs2473128423
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter) rs1271131796
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs) rs2473128520
NM_032383.5(HPS3):c.2525_2526del (p.His842fs) rs2473128577
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs) rs2473128694
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2589+1G>A rs281865095
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2650del (p.Ser884fs) rs2472688343
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter) rs2472688962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer) rs2472689165
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter) rs1724515936
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2800_2801del (p.Leu934fs)
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter) rs760255783
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs) rs1576708708
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter) rs917888974
NM_032383.5(HPS3):c.2887+1G>A rs2472693625

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