ClinVar Miner

List of variants in gene CP, HPS3 studied for Hermansky-Pudlak syndrome 3

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Gene type:
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A rs2681096 0.98243
NM_032383.5(HPS3):c.2796+50C>T rs2681092 0.46501
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
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.*1157C>T rs11537809 0.02347
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
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_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
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.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
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.2699G>A (p.Arg900His) rs202157837 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
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_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)
NM_032383.5(HPS3):c.2380del (p.Val794fs)
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.2491_2493delinsA (p.Cys831fs)
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
NM_032383.5(HPS3):c.2510_2511insACTGTCTC (p.Tyr838fs)
NM_032383.5(HPS3):c.2525_2526del (p.His842fs)
NM_032383.5(HPS3):c.2543_2552del (p.Asp848fs)
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2737G>T (p.Glu913Ter)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
NM_032383.5(HPS3):c.2887+1G>A
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)

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