ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_022081.6(HPS4):c.*1589C>A rs117397456
NM_022081.6(HPS4):c.-530A>G rs3747137
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_032383.5(HPS3):c.884+25del rs10693502
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751

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