ClinVar Miner

List of variants in gene combination CP, HPS3 reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A rs2681096 0.98267
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 0.15919
NM_032383.5(HPS3):c.2796+39G>A rs57192685 0.12553
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11504
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03059
NM_032383.5(HPS3):c.2888-55A>T rs35096694 0.02371
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_032383.5(HPS3):c.2482-29T>G rs114781297 0.01988
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.3182-4A>G rs34272112 0.00805
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00140
NM_032383.5(HPS3):c.2472G>A (p.Ser824=) rs201221505 0.00009
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002

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