ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.1692-192T>G rs772903 0.70590
NM_032383.5(HPS3):c.1164-139A>C rs2254913 0.69814
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_032383.5(HPS3):c.2107-57A>G rs61615092 0.44604
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_032383.5(HPS3):c.1163+62T>G rs11715291 0.27595
NM_032383.5(HPS3):c.1164-25C>T rs2689232 0.17519
NM_032383.5(HPS3):c.2107-52A>G rs57943258 0.17142
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02704
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02342
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01022
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028

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