ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome 3 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 19
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HGVS dbSNP
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*172G>A rs34511277
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.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088
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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