ClinVar Miner

List of variants in gene HPS3 reported as benign for Hermansky-Pudlak syndrome 3

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Total variants: 10
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NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908

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